Eileenkristine



Velez CollegeDepartment of Occupational TherapyPervasive Developmental Disorders/ Autism Spectrum DisordersSubmitted by:Buo, QueenieCabahug, Erika Marie V.Submitted to:Ms. Beverly Ann Lim, OTRPSeptember 21, 2012Pervasive Developmental DisordersPervasive developmental disorders include several that are characterized by impaired reciprocal social interactions, aberrant language development, and restricted behavioral repertoire. Pervasive developmental disorders typically emerge in young children before the age of 3 years, and parents often become concerned about a child by 18 months as language development does not occur as expected. In about 25 percent of cases, some language develops and is subsequently lost. Children with pervasive developmental disorders often exhibit idiosyncratic intense interest in a narrow range of activities, resist change, and are not appropriately responsive to the social environment. These disorders affect multiple areas of development, are manifested early in life, and cause persistent dysfunction. Autistic disorder, the best known of these disorders, is characterized by sustained impairment in comprehending and responding to social cues, aberrant language development and usage, and restricted, stereotypical behavioral patterns. The DSM-IV-TR includes five pervasive developmental disorders: autistic disorder, Rett's disorder, childhood disintegrative disorder, Asperger's disorder, and pervasive developmental disorder not otherwise specified. A recent survey revealed that the average age of diagnosis for children with pervasive developmental disorders was 3.1 years for children with autistic disorder, 3.9 years for pervasive developmental disorder not otherwise specified, and 7.2 years for Asperger's disorder. Autistic DisorderAutistic disorder (historically called early infantile autism, childhood autism, or Kanner's autism) is characterized by symptoms from each of the following three categories: qualitative impairment in social interaction, impairment in communication, and restricted repetitive and stereotyped patterns of behavior or interests.HistoryIn 1867, Henry Maudsley, a psychiatrist, noted a group of very young children with severe mental disorders who had marked deviation, delay, and distortion in developmentIn that era, most serious disturbance in young children was believed to fall within the category of psychoses.In 1943 Leo Kanner, in his classic paper “Autistic Disturbances of Affective Contact” coined the term infantile autism and provided a clear, comprehensive account of the early childhood syndrome. He described children who exhibited extreme autistic aloneness; failure to assume an anticipatory posture; delayed or deviant language development with echolalia and pronominal reversal (using you for I); monotonous repetitions of noises or verbal utterances; excellent rote memory; limited range of spontaneous activities, stereotypies, and mannerisms; anxiously obsessive desire for the maintenance of sameness and dread of change; poor eye contact; abnormal relationships with persons; and a preference for pictures and inanimate objects. Kanner suspected that the syndrome was more frequent than it seemed and suggested that some children with this disorder had been misclassified as mentally retarded or schizophrenic. Before 1980, children with pervasive developmental disorders were generally diagnosed with childhood schizophrenia. Over time, it became evident that autistic disorder and schizophrenia were two distinct psychiatric entities. In some cases, however, a child with autistic disorder may develop a comorbid schizophrenic disorder later in childhood.EpidemiologyPrevalenceAutistic disorder is believed to occur at a rate of about 8 cases per 10,000 children (0.08 percent). Multiple epidemiologic surveys mainly in Europe have resulted in variable rates of autistic disorder ranging from 2 to 30 cases per 10,000. By definition, the onset of autistic disorder is before the age of 3 years, although in some cases, it is not recognized until a child is much older.Sex DistributionAutistic disorder is four to five times more frequent in boys than in girls. Girls with autistic disorder are more likely to have more severe mental retardation.Socioeconomic StatusEarly studies suggested that a high socioeconomic status was more common in families with autistic children; however, these findings were probably based on referral bias. Over the past 25 years, no epidemiological studies have demonstrated an association between autistic disorder and any socioeconomic status.Etiology and PathogenesisGenetic FactorsCurrent evidence supports a genetic basis for the development of autistic disorder in most cases, with a contribution of up to four or five genes. Family studies have demonstrated a 50 to 200 times increase in the rate of autism in siblings of an index child with autistic disorder. Additionally, even when not affected with autism, siblings are at increased risk for a variety of developmental disorders often related to communication and social skills. These difficulties in the nonautistic relatives of people with autistic disorder are also known by researchers as the “broad phenotype.” Linkage analyses have demonstrated that regions of chromosomes 7, 2, 4, 15, and 19 are likely to contribute to the genetic basis of autism. Researchers hypothesize that some genetic forms of autism may be identified in the near future.High rates of cognitive difficulties, even in the nonautistic twin in monozygotic twins with perinatal complications, suggest that contributions of perinatal insult along with genetic vulnerability may lead to autistic disorder.Fragile X syndrome, a genetic disorder in which a portion of the X chromosome fractures, appears to be associated with autistic disorder. Children with fragile X syndrome tend to show gross motor and fine motor difficulties as well as relatively poorer expressive language compared with children with autism without fragile X syndrome. Tuberous sclerosis, a genetic disorder characterized by multiple benign tumors, with autosomal dominant transmission is found with greater frequency among children with autistic disorder. Up to 2 percent of children with autistic disorder may also have tuberous sclerosis.Recently, researchers screened the DNA of more than 150 pairs of siblings with autism. They found extremely strong evidence that two regions on chromosomes 2 and 7 contain genes involved with autism. Likely locations for autism-related genes were also found on chromosomes 16 and 17, although the strength of the correlation was somewhat weaker. Historically, Kanner, in 1943, described 11 cases of developmentally disordered people and hypothesized that their autistic features were caused by emotionally unresponsive “refrigerator” mothers, but no validity exists to this hypothesis. Biological FactorsThe high rate of mental retardation among children with autistic disorder and the higher-than-expected rates of seizure disorders further support the biological basis for autistic disorder. Approximately 70 percent of children with autistic disorder have mental retardation. About one third of these children have mild to moderate mental retardation, and close to half of these children are severely or profoundly mentally retarded. Children with autistic disorder and mental retardation typically show more marked deficits in abstract reasoning, social understanding, and verbal tasks than in performance tasks, such as block design and digit recall, in which details can be remembered without reference to the “gestalt” meaning.Of persons with autism, 4 to 32 percent have grand mal seizures at some time, and about 20 to 25 percent show ventricular enlargement on computed tomography (CT) scans. Various electroencephalogram (EEG) abnormalities are found in 10 to 83 percent of autistic children, and although no EEG finding is specific to autistic disorder, there is some indication of failed cerebral lateralization. Recently, one magnetic resonance imaging (MRI) study revealed hypoplasia of cerebellar vermal lobules VI and VII, and another MRI study revealed cortical abnormalities, particularly polymicrogyria, in some autistic patients. Those abnormalities may reflect abnormal cell migrations in the first 6 months of gestation. An autopsy study revealed fewer Purkinje's cells, and another study found increased diffuse cortical metabolism during positron emission tomography (PET) scanning.Autistic disorder is also associated with neurological conditions, notably congenital rubella, phenylketonuria (PKU), and tuberous sclerosis. Autistic children have higher than expected histories of perinatal complications compared with the general population and also compared with children with other psychiatric disorders. The finding that autistic children have significantly more minor congenital physical anomalies than expected suggests abnormal development within the first trimester of pregnancy.Immunological FactorsSeveral reports have suggested that immunological incompatibility (i.e., maternal antibodies directed at the fetus) may contribute to autistic disorder. The lymphocytes of some autistic children react with maternal antibodies, which raise the possibility that embryonic neural or extraembryonic tissues may be damaged during gestation.Perinatal FactorsA higher-than-expected incidence of perinatal complications seems to occur in infants who are later diagnosed with autistic disorder. Maternal bleeding after the first trimester and meconium in the amniotic fluid have been reported in the histories of autistic children more often than in the general population. In the neonatal period, autistic children have a high incidence of respiratory distress syndrome and neonatal anemia. Males with autism, as a group, have been found to be the products of longer gestational age and were heavier at birth than babies in the general population. Females with autism are more likely to be the product of postterm pregnancies than babies in the general population.Neuroanatomical FactorsThe neuroanatomical basis of autism remains unknown; recent evidence suggests that enlargement of gray and white matter cerebral volumes, but not cerebellar volumes, are present in children with autistic disorder at 2 years of age. Head circumference appears normal at birth, and the increased rate of head circumference growth appears to emerge at about 12 months of age. Previous MRI studies comparing autistic subjects and normal controls revealed total brain volume was larger in those with autism, although autistic children with severe mental retardation generally have smaller heads. The greatest average percentage increase in size occurred in the occipital lobe, parietal lobe, and temporal lobe. No differences were found in the frontal lobes. Specific origins of this enlargement are unknown. The increased volume can arise from three different possible mechanisms: increased neurogenesis, decreased neuronal death, and increased production of nonneuronal brain tissue, such as glial cells or blood vessels. Brain enlargement has been suggested as a possible biological marker for autistic disorder.The temporal lobe is believed to be one of the critical areas of brain abnormality in autistic disorder. This suggestion is based on reports of autistic-like syndromes in some persons with temporal lobe damage. When the temporal region of animals is damaged, normal social behavior is lost, and restlessness, repetitive motor behavior, and a limited behavioral repertoire are seen. Some brains of autistic individuals exhibit a decrease in cerebellar Purkinje's cells, which is believed to account potentially for abnormalities of attention, arousal, and sensory processes.Biochemical FactorsA number of studies in the last few decades have demonstrated that about one third of patients with autistic disorder have high plasma serotonin concentrations. This finding, however, is not specific to autistic disorder, and persons with mental retardation without autistic disorder also display this trait. In some autistic children, a high concentration of homovanillic acid (the major dopamine metabolite) in cerebrospinal fluid (CSF) is associated with increased withdrawal and stereotypes. Psychosocial and Family FactorsStudies comparing parents of autistic children with parents of normal children have shown no significant differences in child-rearing skills.Children with autistic disorder, as children with other disorders, can respond with exacerbated symptoms to psychosocial stressors, including family discord, the birth of a new sibling, or a family move. Some children with autistic disorder may be excruciatingly sensitive to even small changes in their families and immediate environment.Signs and SymptomsDiagnosis and Clinical FeaturesDSM-IV-TR Diagnostic Criteria for Autistic DisorderA total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3): qualitative impairment in social interaction, as manifested by at least two of the following: marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction failure to develop peer relationships appropriate to developmental level a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest) lack of social or emotional reciprocityqualitative impairments in communication as manifested by at least one of the following: delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others stereotyped and repetitive use of language or idiosyncratic language lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental levelrestricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus apparently inflexible adherence to specific, nonfunctional routines or rituals stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) persistent preoccupation with parts of objectsDelays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play. The disturbance is not better accounted for by Rett's disorder or childhood disintegrative disorder.Physical CharacteristicsOn first glance, children with autistic disorder do not show any physical signs indicating the disorder. These children do have high rates of minor physical anomalies, such as ear malformations, and others that may reflect abnormalities in fetal development of those organs along with parts of the brain.A greater than expected number of autistic children do not show lateralization and remain ambidextrous at an age when cerebral dominance is established in most children. Autistic children also have a higher incidence of abnormal dermatoglyphics (e.g., fingerprints) than those in the general population. Behavioral CharacteristicsQualitative Impairments in Social InteractionAutistic children do not exhibit the expected level of subtle reciprocal social skills that demonstrate relatedness to parents and peers. As infants, many lack a social smile and anticipatory posture for being picked up as an adult approaches. Less frequent or poor eye contact is common. The social development of autistic children is characterized by impaired, but not usually totally absent, attachment behavior. Autistic children often do not acknowledge or differentiate the most important persons in their lives--parents, siblings, and teachers--and may show extreme anxiety when their usual routine is disrupted, but they may not react overtly to being left with a stranger. When autistic children have reached school age, their withdrawal may have diminished and be less obvious, particularly in higher-functioning children. A notable deficit is seen in ability to play with peers and to make friends; their social behavior is awkward and may be inappropriate. Cognitively, children with autistic disorder are more skilled in visual-spatial tasks than in tasks requiring skill in verbal reasoning.One description of the cognitive style of children with autism is that they cannot infer the feelings or mental state of others around them. That is, they cannot make attributions about the motivation or intentions of others and, thus, cannot develop empathy. This lack of a “theory of mind” leaves them unable to interpret the social behavior of others and leads to a lack of social reciprocation.In late adolescence, autistic persons often desire friendships, but their difficulties in responding to another's interests, emotions, and feelings are major obstacles in developing them. They are often shunned by peers and behave in awkward ways that alienate them from others. Autistic adolescents and adults experience sexual feelings, but their lack of social competence and skills prevents many of them from developing sexual relationships.Disturbances of Communication and LanguageDeficits in language development and difficulty using language to communicate ideas are among the principal criteria for diagnosing autistic disorder. Autistic children are not simply reluctant to speak, and their speech abnormalities do not result from lack of motivation. Language deviance, as much as language delay, is characteristic of autistic disorder. Autistic children have significant difficulty putting meaningful sentences together even when they have large vocabularies. When children with autistic disorder do learn to converse fluently, their conversations may impart information without providing a sense of acknowledging how the other person is responding. In children with autism and nonautistic children with language disorders, nonverbal communication skills may also be impaired when significant difficulty with expressive language exists.In the first year of life, an autistic child's pattern of babbling may be minimal or abnormal. Some children emit noise-- clicks, sounds, screeches, and nonsense syllables-- in a stereotyped fashion, without a seeming intent of communication. Unlike normal young children, who generally have better receptive language skills than expressive ones, verbal autistic children may say more than they understand. Words and even entire sentences may drop in and out of a child's vocabulary. It is not atypical for a child with autistic disorder to use a word once and then not use it again for a week, a month, or years. Children with autistic disorder typically exhibit speech that contains echolalia, both immediate and delayed, or stereotyped phrases that seem out of context. These language patterns are frequently associated with pronoun reversals. A child with autistic disorder might say, “You want the toy” when she means that she wants it. Difficulties in articulation are also common. Many children with autistic disorder use peculiar voice quality and rhythm. About 50 percent of autistic children never develop useful speech. Some of the brightest children show a particular fascination with letters and numbers. Children with autistic disorder sometimes excel in certain tasks or have special abilities; for example, a child may learn to read fluently at preschool age (hyperlexia), often astonishingly well. Stereotyped BehaviorIn the first years of an autistic child's life, much of the expected spontaneous exploratory play is absent. Toys and objects are often manipulated in a ritualistic manner, with few symbolic features. Autistic children generally do not show imitative play or use abstract pantomime. The activities and play of these children are often rigid, repetitive, and monotonous. Ritualistic and compulsive phenomena are common in early and middle childhood. Children often spin, bang, and line up objects and may exhibit an attachment to a particular inanimate object. Many autistic children, especially those who are severely mentally retarded, exhibit movement abnormalities. Stereotypies, mannerisms, and grimacing are most frequent when a child is left alone and may decrease in a structured situation. Autistic children are generally resistant to transition and change. Moving to a new house, moving furniture in a room, or a change, such as having breakfast before a bath when the reverse was the routine, may evoke panic, fear, or temper tantrums.Instability of Mood and AffectSome children with autistic disorder exhibit sudden mood changes, with bursts of laughing or crying without an obvious reason. It is difficult to learn more about these episodes if the child cannot express the thoughts related to the affect.Response to Sensory StimuliAutistic children have been observed to overrespond to some stimuli and underrespond to other sensory stimuli (e.g., to sound and pain). Some children with autistic disorder have a heightened pain threshold or an altered response to pain. Indeed, some autistic children do not respond to an injury by crying or seeking comfort. Many autistic children reportedly enjoy music. They frequently hum a tune or sing a song or commercial jingle before saying words or using speech. Some particularly enjoy vestibular stimulation--spinning, swinging, and up-and-down movements.Associated Behavioral SymptomsHyperkinesis is a common behavior problem in young autistic children. Hypokinesis is less frequent; when present, it often alternates with hyperactivity. Aggression and temper tantrums are observed, often prompted by change or demands. Self-injurious behavior includes head banging, biting, scratching, and hair pulling. Short attention span, poor ability to focus on a task, insomnia, feeding and eating problems, and enuresis are also common among children with autism.Associated Physical IllnessYoung children with autistic disorder have been reported to have a higher-than-expected incidence of upper respiratory infections and other minor infections. Gastrointestinal symptoms commonly found among children with autistic disorder include excessive burping, constipation, and loose bowel movements. Also seen is an increased incidence of febrile seizures in children with autistic disorder. Some autistic children do not show temperature elevations with minor infectious illnesses and may not show the typical malaise of ill children.Intellectual FunctioningAbout 70 to 75 percent of children with autistic disorder function in the mentally retarded range of intellectual function. About 30 percent of children function in the mild to moderate range, and about 45 to 50 percent are severely to profoundly mentally retarded. Epidemiological and clinical studies show that the risk for autistic disorder increases as the IQ decreases. The IQ scores of autistic children tend to reflect most severe problems with verbal sequencing and abstraction skills, with relative strengths in visuospatial or rote memory skills. Unusual or precocious cognitive or visuomotor abilities occur in some autistic children. The abilities, which may exist even in the overall retarded functioning, are referred to as splinter functions or islets of precocity. Perhaps the most striking examples are idiot or autistic savants, who have prodigious rote memories or calculating abilities, usually beyond the capabilities of their normal peers. Other precocious abilities in young autistic children include hyperlexia, an early ability to read well (although they cannot understand what they read), memorizing and reciting, and musical abilities (singing or playing tunes or recognizing musical pieces).Course and PrognosisAutistic disorder is generally a lifelong disorder with a guarded prognosis. Autistic children with IQs above 70 and those who use communicative language by ages 5 to 7 years tend to have the best prognoses. Recent follow-up data comparing high-IQ autistic children at the age of 5 years with their current symptomatology at ages 13 through young adulthood found that a small proportion no longer met criteria for autism, although they still exhibited some features of the disorder. Most demonstrated positive changes in communication and social domains over time.The symptom areas that did not seem to improve over time were those related to ritualistic and repetitive behaviors. In general, adult-outcome studies indicate that about two thirds of autistic adults remain severely handicapped and live in complete dependence or semidependence, either with their relatives or in long-term institutions. Only 1 to 2 percent acquires a normal, independent status with gainful employment, and 5 to 20 percent achieve a borderline normal status. The prognosis is improved if the environment or home is supportive and capable of meeting the extensive needs of such a child. TreatmentThe goals of treatment for children with autistic disorder are to target behaviors that will improve their abilities to integrate into schools, develop meaningful peer relationships, and increase the likelihood of maintaining independent living as adults. To do this, treatment interventions aim to increase socially acceptable and prosocial behavior, to decrease odd behavioral symptoms, and to improve verbal and nonverbal communication. Both language and academic remediation are often required. In addition, treatment goals generally include reduction of disruptive behaviors that may be exacerbated especially during transitions and in school. In addition, parents, often distraught, need support and counseling. Insight-oriented individual psychotherapy has proved ineffective. Educational and behavioral interventions are currently considered the treatments of choice. Structured classroom training, in combination with behavioral methods, is the most effective treatment for many autistic children.Well-controlled studies indicate that gains in the areas of language and cognition and decreases in maladaptive behaviors are achieved by consistent behavioral programs. Careful training of parents in the concepts and skills of behavior modification and resolution of the parents' concerns may yield considerable gains in children's language, and cognitive and social areas of behavior. Facilitated communication is a technique by which an autistic or a mentally retarded child with some language is aided in communication by a teacher who helps the child pick out letters on a computer or letter board. Some facilitators have reported success in eliciting language to produce messages demonstrating a child's ability to read and write, to do mathematics, to express feelings, and even to write poetry. Although these techniques are risky, because the facilitator may need to inject much interpretation to produce typical communication, some families of autistic children support this technique and continue to use it.Currently, no specific medications with proved efficacy in the treatment of the core symptoms of autistic disorder are available; however medications have been shown to be promising in reducing hyperactivity, obsessions and compulsive behaviors, irritability, aggression, and self-injurious behaviors.Escitalopram (Lexapro) showed a trend toward improvement in 61 percent of subjects on the following subscales of the Aberrant Behavior Checklist-Community Version (ABC-CV) Irritability, Lethargy, Stereotypy, Hyperactivity, and Inappropriate Speech. Methylphenidate (Ritalin) in 72 children (between the ages of 5 and 14 years with pervasive developmental disorders and hyperactivity) revealed that methylphenidate was superior to placebo in the treatment of hyperactivity in 49 percent of the subjects.Haloperidol (Haldol) reduced behavioral symptoms such as hyperactivity, stereotypies, withdrawal, fidgetiness, irritability, and labile affect and accelerated learning. Given its potentially serious adverse effects, haloperidol is no longer the antipsychotic agent of choice in the treatment of self-injurious behaviors in children with autistic disorder.The atypical antipsychotic agents:Risperidone (Risperdal), used to subdue aggressive or self-injurious behaviors. Several reports have suggested that risperidone is effective in diminishing aggressiveness, hyperactivity, and self-injurious behavior in children with autistic disorder. In some cases, it reportedly encouraged socially acceptable behaviors. Studies of risperidone use in the treatment of adult and adolescent psychosis indicate that a dosage up to 4 to 6 mg per day may be necessary for optional effect. For children with autism, lower dosages ranging from 0.5 to 4 mg per day are used in clinical practice. Extrapyramidal effects and akathisia have been reported adverse effects, as well as sedation, dizziness, and weight gain. The side effects that caused the most concern were somnolence and weight gain.Olanzapine (Zyprexa). No studies provide specific guidelines regarding the use of olanzapine in children with autism. Dosages that have been used clinically to target aggression and self-injurious behaviors range from 2.5 to about 10 mg per day. Among olanzapine's most common adverse effects are sedation, orthostatic hypotension, and (over time) weight gain.Quetiapine(Seroquel), is an antipsychotic with more potent 5-H2 than D2 receptor blocking properties. Although no data on its effectiveness on aggression in children with autism exist, it is sometimes tried when risperidone and olanzapine are not efficacious or well tolerated. No guidelines exist about best dosage; it has been used in clinical practice at dosages ranging from 50 to 200 mg per day. Adverse effects include drowsiness, tachycardia, agitation, and weight gain.Clozapine (Clozaril), it is not generally used in the treatment of aggression and self-injurious behavior unless those behaviors coexist with psychotic symptoms. Its most serious adverse effect is agranulocytosis, which n monitoring white blood cell count weekly during clozapine's use. Its use is generally limited to treatment-resistant psychotic patients.Ziprasidone (Geodon). Adverse effects include sedation, dizziness, and lightheadedness. An electrocardiogram (ECG) is generally obtained before use of this medication.Lithium (Eskalith) can be administered in the treatment of aggressive or self-injurious behaviors when antipsychotic medications fail.Amantadine (Symmetrel), which blocks N-methyl-D-aspartate (NMDA) receptors, in the treatment of behavioral disturbance, such as irritability, aggression, and hyperactivity in children with autism. Investigators rated the children on amantadine “significantly improved“ with respect to hyperactivity.Clomipramine (Anafranil) has been used in autistic disorders, but without positive results. Fenfluramine (Pondimin), which reduces blood serotonin levels, has also been used unsuccessfully in the treatment of autism. Improvement does not seem to be associated with a reduction in blood serotonin level. Naltrexone (ReVia), an opioid receptor antagonist, has been investigated without much success, based on the notion that blocking endogenous opioids would reduce autistic symptoms.Tetrahydrobiopterin, a coenzyme that enhances the action of enzymes. Results indicated small, no significant changes in the total scores on the Childhood Autism Rating Scale after 3- and 6-month treatment. Post hoc analysis of the three core symptoms of autism “social interaction, communication, and stereotyped behaviors” revealed a significant improvement in social interaction score after 6 months of active treatment. A positive correlation was noted between social response and IQ. These results suggest that there is a possible effect of tetrahydrobiopterin on the social functioning of children with autism.Venlafaxine (Effexor) was efficacious in three adolescents and young adults with autistic disorder with self-injurious behavior and hyperactivity. Dose of venlafaxine used was 18.75 mg per day, and efficacy was reported to be sustained over a 6-month period.Rett's DisorderIn 1965, Andreas Rett, an Australian physician, identified a syndrome in 22 girls who appeared to have developed normally for at least 6-months followed by devastating developmental deterioration. Rett's disorder is a progressive condition that has its onset after some months of what appears to be normal development. Head circumference is normal at birth and developmental milestones are unremarkable in early life. Between 5 and 48 months of age, generally between 6 months and a year, head growth begins to decelerate.EpidemiologyPrevalence of 6 to 7 cases of Rett's disorder per 100,000 girls. Originally, it was believed that Rett's disorder occurred only in females, but males with the disorder or syndromes that are very close to this disorder have now been described.EtiologyThe cause of Rett's disorder is unknown, although the progressive deteriorating course after an initial normal period is compatible with a metabolic disorder. In some patients with Rett's disorder, the presence of hyperammonemia has led to postulation that an enzyme metabolizing ammonia is deficient, but hyperammonemia has not been found in most patients with Rett's disorder. It is likely that Rett's disorder has a genetic basis. It has been seen primarily in girls, and case reports so far indicate complete concordance in monozygotic twins.PathophysiologyRett syndrome is a genetic disorder of neurodevelopmental arrest rather than a progressive process. RTT is caused by mutations in the gene Methyl-CpG-binding protein-2?(MECP2)?located on the X chromosome, and can arise sporadically or from germline mutations. In less than 10% of RTT cases, mutations in the genes cyclin-dependent kinase-like 5 (CDKL5)?or?Forkhead box protein G1 (FOXG1) ?have also been found to resemble it. Signs and SymptomsDSM-IV-TR Diagnostic Criteria for Rett's DisorderAll of the following: apparently normal prenatal and perinatal development apparently normal psychomotor development through the first 5 months after birth normal head circumference at birthOnset of all of the following after the period of normal development: deceleration of head growth between ages 5 and 48 months loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of stereotyped hand movements (e.g., hand wringing or hand washing) loss of social engagement early in the course (although often social interaction develops later) appearance of poorly coordinated gait or trunk movements severely impaired expressive and receptive language development with severe psychomotor retardationDiagnosis and Clinical FeaturesDuring the first 5 months after birth, infants have age-appropriate motor skills, normal head circumference, and normal growth. Social interactions show the expected reciprocal quality. At 6 months to 2 years of age, however, these children develop progressive encephalopathy with a number of characteristic features. The signs often include the loss of purposeful hand movements, which are replaced by stereotypic motions, such as hand-wringing; the loss of previously acquired speech; psychomotor retardation; and ataxia. Other stereotypical hand movements may occur, such as licking or biting the fingers and tapping or slapping. The head circumference growth decelerates and produces microcephaly. All language skills are lost, and both receptive and expressive communicative and social skills seem to plateau at developmental levels between 6 months and 1 year. Poor muscle coordination and an apraxic gait with an unsteady and stiff quality develop. An additional associated feature is irregular respiration, with episodes of hyperventilation, apnea, and breath holding. The disorganized breathing occurs in most patients while they are awake; during sleep, the breathing usually normalizes. Many patients with Rett's disorder also have scoliosis. As the disorder progresses, muscle tone seems to change from an initial hypotonic condition to spasticity to rigidity.Although children with Rett's disorder may live for well over a decade after the onset of the disorder, after 10 years, many patients are wheelchair-bound, with muscle wasting, rigidity, and virtually no language ability. Long-term receptive and expressive communication and socialization abilities remain at a developmental level of less than 1 year.Course and PrognosisRett's disorder is progressive. The prognosis is not fully known, but patients who live into adulthood remain at a cognitive and social level equivalent to that in the first year of life.TreatmentTreatment is symptomatic. Physiotherapy has been beneficial for the muscular dysfunction, and anticonvulsant treatment is usually necessary to control the seizures. Behavior therapy, along with medication, may help control self-injurious behaviors, as it does in the treatment of autistic disorder, and it may help regulate the breathing disorganization.Childhood Disintegrative Disordercharacterized by marked regression in several areas of functioning after at least 2 years of apparently normal development. also called Heller's syndrome and disintegrative psychosis, was described in 1908 as a deterioration over several months of intellectual, social, and language function occurring in 3 and 4 year-olds with previously normal functions. After the deterioration, the children closely resembled children with autistic disorder.Epidemiologyis estimated to be at least one tenth as common as autistic disorder, and the prevalence has been estimated to be about 1 case in 100,000 boys. The ratio of boys to girls is estimated to be between 4 and 8 boys to 1 girl.EtiologyThe cause of childhood disintegrative disorder is unknown, but it has been associated with other neurological conditions, including seizure disorders, tuberous sclerosis, and various metabolic disorders.Signs and SymptomsDiagnosis and Clinical FeaturesThe diagnosis is made on the basis of features that fit a characteristic age of onset, clinical picture, and course. onset from ages 1 to 9 years, but in most, the onset is between 3 and 4 yearsaccording to DSM-IV-TR, the minimum age of onset is 2 years. In some cases, a child displays restlessness, increased activity level, and anxiety before the loss of function. The core features of the disorder include:loss of communication skills marked regression of reciprocal interactionsonset of stereotyped movements and compulsive behavior. To receive the diagnosis, a child must exhibit loss of skills in two of the following areas:language, social or adaptive behaviourbowel or bladder controlplaymotor skills.Abnormalities must be present in at least two of the following categories: reciprocal social interactioncommunication skillsstereotyped or restricted behavior. The main neurological associated feature is seizure disorder.DSM-IV-TR Diagnostic Criteria for Childhood Disintegrative DisorderApparently normal development for at least the first 2 years after birth as manifested by the presence of age-appropriate verbal and nonverbal communication, social relationships, play, and adaptive behavior. Clinically significant loss of previously acquired skills (before age 10 years) in at least two of the following areas: expressive or receptive language social skills or adaptive behaviorbowel or bladder control play motor skillsAbnormalities of functioning in at least two of the following areas: qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity) qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of varied make-believe play) restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, including motor stereotypies and mannerismsThe disturbance is not better accounted for by another specific pervasive developmental disorder or by schizophrenia.Course and PrognosisThe course of childhood disintegrative disorder is variable, with a plateau reached in most cases, a progressive deteriorating course in rare cases, and some improvement in occasional cases to the point of regaining the ability to speak in sentences. Most patients are left with at least moderate mental retardation.TreatmentThe treatment of childhood disintegrative disorder includes the same components available in the treatment of autistic disorder.Asperger's DisorderAsperger's disorder is characterized by impairment and oddity of social interaction and restricted interest and behavior reminiscent of those seen in autistic disorder. Unlike autistic disorder, in Asperger's disorder no significant delays occur in language, cognitive development, or age-appropriate self-help skills. In 1944, Hans Asperger, an Austrian physician, described a syndrome that he named “autistic psychopathy.” His original description of the syndrome applied to persons with normal intelligence who exhibit a qualitative impairment in reciprocal social interaction and behavioral oddities without delays in language development. Asperger's disorder occurs in a wide variety of severities, including cases in which very subtle social cues are missed, but overall social interactions are mastered.EpidemiologyBecause of the divergent diagnostic criteria used in the United States and Canada, estimates of the prevalence of Asperger syndrome vary widely. Various studies indicate rates ranging from 1 case in 250-10,000 children. Additional epidemiologic studies are needed, using widely accepted criteria and a screening instrument that targets these criteria. Likely, many people in North America with Asperger syndrome are undiagnosed. Many people with Asperger syndrome are probably members of the general population without an awareness of their diagnosis. The estimated male-to-female ratio is approximately 4:1. Asperger syndrome is commonly diagnosed in the early school years and less frequently during early childhood or in adulthood.EtiologyThe cause of Asperger's disorder is unknown, but family studies suggest a possible relationship to autistic disorder. The similarity of Asperger's disorder to autistic disorder supports the presence of genetic, metabolic, infectious, and perinatal contributing factors.Pathophysiology?Asperger’s disorder group demonstrated parallel abnormalities in the right hemisphere.??A meta-analysis of MRI studies found that grey-matter differences in people with AS were sparser, compared with controls, than those in people with autism, but the distribution and nature of differences were distinctive for the 2 groups.Signs and SymptomsDSM-IV-TR Diagnostic Criteria for Asperger's DisorderQualitative impairment in social interaction, as manifested by at least two of the following: marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction failure to develop peer relationships appropriate to developmental level a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people) lack of social or emotional reciprocityRestricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus apparently inflexible adherence to specific, nonfunctional routines or rituals stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) persistent preoccupation with parts of objectsThe disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning. There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years). There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction), and curiosity about the environment in childhood. Criteria are not met for another specific pervasive developmental disorder or schizophrenia.Diagnosis and Clinical FeaturesThe clinical features include at least two of the following indications of qualitative social impairment: Markedly abnormal nonverbal communicative gestures, the failure to develop peer relationships, the lack of social or emotional reciprocity, and an impaired ability to express pleasure in other persons' happiness. Restricted interests and patterns of behavior are always present, but when they are subtle, they may not be immediately identified or singled out as different from those of other children. According to DSM-IV-TR, the patient shows no language delay, clinically significant cognitive delay, or adaptive impairment.Course and PrognosisThe factors associated with a good prognosis are a normal IQ and high-level social skills. Anecdotal reports of some adults diagnosed with Asperger's disorder as children show them to be verbal and intelligent; however, they relate in an awkward way to other adults, appear socially uncomfortable and shy, and often exhibit illogical thinking.TreatmentTreatment of Asperger's disorder is supportive, and goals are to promote social behaviors and peer relationships. The tendency of children and adolescents with Asperger's disorder to rely on rigid rules and routines can become a source of difficulty for them and be an area that requires therapeutic intervention. A comfort with routines, however, can be utilized to foster positive habits that may enhance the social life of a child with Asperger's disorder. Self-sufficiency and problem-solving techniques are often helpful for these individuals in social situations and in a work setting. Some of the same techniques used for autistic disorder are likely to benefit patients with Asperger's disorder with severe social impairment.Pervasive Developmental Disorder not Otherwise Specifiedsevere, pervasive impairment in communication skills or the presence of stereotyped behavior, interests, and activities with associated impairment in social interactions according to DSM-IV-TRThe criteria for a specific pervasive developmental disorder, schizophrenia, and schizotypal and avoidant personality disorders are not metSome children who receive the diagnosis exhibit a markedly restricted repertoire of activities and interest. The condition usually shows a better outcome than autistic disorder.ICD-10 Diagnostic Criteria for Pervasive Developmental DisordersChildhood autismAbnormal or impaired development is evident before the age of 3 years in at least one of the following areas: receptive or expressive language as used in social communication; the development of selective social attachments or of reciprocal social interaction; functional or symbolic play.A total of at least six symptoms from (1), (2), and (3) must be present, with at least two from (1) and at least one from each of (2) and (3): Qualitative abnormalities in reciprocal social interaction are manifest in at least two of the following areas: failure adequately to use eye-to-eye gaze, facial expression, body posture, and gesture to regulate social interaction; failure to develop (in a manner appropriate to mental age, and despite ample opportunities) peer relationships that involve a mutual sharing of interests, activities, and emotions; lack of socioemotional reciprocity as shown by an impaired or deviant response to other people's emotions; or lack of modulation of behavior according to social context; or a weak integration of social, emotional, and communicative behaviors; lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., a lack of showing, bringing, or pointing out to other people objects of interest to the individual).Qualitative abnormalities in communication are manifest in at least one of the following areas: a delay in, or total lack of, development of spoken language that is not accompanied by an attempt to compensate through the use of gesture or mime as an alternative mode of communication (often preceded by a lack of communicative babbling); relative failure to initiate or sustain conversational interchange (at whatever level of language skills is present), in which there is reciprocal responsiveness to the communications of the other person; stereotyped and repetitive use of language or idiosyncratic use of words or phrases; lack of varied spontaneous make-believe or (when young) social imitative play.Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities are manifest in at least one of the following areas: an encompassing preoccupation with one or more stereotyped and restricted patterns of interest that are abnormal in content or focus; or one or more interests that are abnormal in their intensity and circumscribed nature though not in their content or focus; apparently compulsive adherence to specific, nonfunctional routines or rituals; stereotyped and repetitive motor mannerisms that involve either hand or finger flapping or twisting, or complex whole body movements; preoccupations with part-objects or nonfunctional elements of play materials (such as their odor, the feel of their surface, or the noise or vibration that they generate).The clinical picture is not attributable to the other varieties of pervasive developmental disorder: specific developmental disorder of receptive language with secondary socioemotional problems; reactive attachment disorder or disinhibited attachment disorder, mental retardation with some associated emotional or behavioral disorder; schizophrenia of unusually early onset; and Rett's syndrome.Atypical autismAbnormal or impaired development is evident at or after the age of 3 years (criteria as for autism except for age of manifestation). There are qualitative abnormalities in reciprocal social interaction or in communication, or restricted, repetitive, and stereotyped patterns of behavior, interests, and activities. (Criteria as for autism except that it is unnecessary to meet the criteria for number of areas of abnormality.) The disorder does not meet the diagnostic criteria for autism. Autism may be atypical in either age of onset or symptomatology; the two types are differentiated with a fifth character for research purposes. Syndromes that are atypical in both respects should be coded. Atypicality in both ages of onset and symptomatology.Atypicality in age of onsetThe disorder does not meet Criterion A for autism; that is, abnormal or impaired development is evident only at or after the age of 3 years. The disorder meets Criteria B and C for autism.Atypicality in symptomatologyThe disorder meets Criterion A for autism; that is, abnormal or impaired development is evident before the age of 3 years. There are qualitative abnormalities in reciprocal social interactions or in communication, or restricted, repetitive, and stereotyped patterns of behavior, interests, and activities. (Criteria as for autism except that it is unnecessary to meet the criteria for number of areas of abnormality.) The disorder meets Criterion C for autism. The disorder does not fully meet Criterion B for autism.Atypicality in both age of onset and symptomatologyThe disorder does not meet Criterion A for autism; that is, abnormal or impaired development is evident only at or after the age of 3 years. There are qualitative abnormalities in reciprocal social interactions or in communication, or restricted, repetitive, and stereotyped patterns of behavior, interests, and activities. (Criteria as for autism except that it is unnecessary to meet the criteria for number of areas of abnormality.) The disorder meets Criterion C for autism. The disorder does not fully meet Criterion B for autism.Rett's syndromeThere is an apparently normal prenatal and perinatal period and apparently normal psychomotor development through the first 5 months and normal head circumference at birth. There is deceleration of head growth between 5 months and 4 years and loss of acquired purposeful hand skills between 5 and 30 months of age that is associated with concurrent communication dysfunction and impaired social interactions and the appearance of poorly coordinated/unstable gait and/or trunk movements. There is severe impairment of expressive and receptive language, together with severe psychomotor retardation. There are stereotyped midline hand movements (such as hand-wringing or “hand-washing”) with an onset at or after the time when purposeful hand movements are lost.Other childhood disintegrative disorderDevelopment is apparently normal up to the age of at least 2 years. The presence of normal age-appropriate skills in communication, social relationships, play, and adaptive behavior at age 2 years or later is required for diagnosis. There is a definite loss of previously acquired skills at about the time of onset of the disorder. The diagnosis requires a clinically significant loss of skills (not just a failure to use them in certain situations) in at least two of the following areas: expressive or receptive language; play; social skills or adaptive behavior; bowel or bladder control; motor skills.Qualitatively abnormal social functioning is manifest in at least two of the following areas: qualitative abnormalities in reciprocal social interaction (of the type defined for autism); qualitative abnormalities in communication (of the type defined for autism); restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, including motor stereotypies and mannerisms; a general loss of interest in objects and in the environment.The disorder is not attributable to the other varieties of pervasive developmental disorder; acquired aphasia with epilepsy; elective mutism; Rett's syndrome; or schizophrenia.Overactive disorder associated with mental retardation and stereotyped movementsSevere motor hyperactivity is manifest by at least two of the following problems in activity and attention: continuous motor restlessness, manifest in running, jumping, and other movements of the whole body; marked difficulty in remaining seated: the child will ordinarily remain seated for a few seconds at most except when engaged in a stereotypic activity (see Criterion B); grossly excessive activity in situations where relative stillness is expected; very rapid changes of activity, so that activities generally last for less than a minute (occasional longer periods spent in highly favored activities do not exclude this, and very long periods spent in stereotypic activities can also be compatible with the presence of this problem at other times).Repetitive and stereotyped patterns of behavior and activity are manifest by at least one of the following: fixed and frequently repeated motor mannerisms: these may involve either complex movements of the whole body or partial movements such as hand-flapping; excessive and nonfunctional repetition of activities that are constant in form: this may be play with a single object (e.g., running water) or a ritual of activities (either alone or involving other people); repetitive self-injury.IQ is less than 50. There is no social impairment of the autistic type, i.e., the child must show at least three of the following: developmentally appropriate use of eye gaze, expression, and posture to regulate social interaction; developmentally appropriate peer relationships that include sharing of interests, activities, etc.; approaches to other people, at least sometimes, for comfort and affection; ability to share other people's enjoyment at times; other forms of social impairment, e.g., a disinhibited approach to strangers, are compatible with the diagnosis.The disorder does not meet diagnostic criteria for autism, childhood disintegrative disorder, or hyperkinetic disorders.Asperger's syndromeThere is no clinically significant general delay in spoken or receptive language or cognitive development. Diagnosis requires that single words should have developed by 2 years of age or earlier and that communicative phrases be used by 3 years of age or earlier. Self-help skills, adaptive behavior, and curiosity about the environment during the first 3 years should be at a level consistent with normal intellectual development. However, motor milestones may be somewhat delayed and motor clumsiness is usual (although not a necessary diagnostic feature). Isolated special skills, often related to abnormal preoccupations, are common, but are not required for diagnosis. There are qualitative abnormalities in reciprocal social interaction (criteria as for autism). The individual exhibits an unusually intense, circumscribed interest or restricted, repetitive, and stereotyped patterns of behavior, interests, and activities (criteria as for autism; however, it would be less usual for these to include either motor mannerisms or preoccupations with part-objects or nonfunctional elements of play materials). The disorder is not attributable to the other varieties of pervasive developmental disorder: simple schizophrenia; schizotypal disorder; obsessive-compulsive disorder; anakastic personality disorder; reactive and disinhibited attachment disorders of childhood.Other pervasive developmental disordersPervasive developmental disorder, unspecifiedThis is a residual diagnostic category that should be used for disorders which fit the general description for pervasive developmental disorders but in which contradictory findings or a lack of adequate information mean that the criteria for any of the other pervasive developmental disorders codes cannot be met.TreatmentThe treatment approach is basically the same as in autistic disorder. pervasive developmental disorder not otherwise specified generally have better language skills and more self-awareness, so they are candidates for psychotherapyOT AppsFrame of ReferenceSensory IntegrationIs a neurological process that organizes sensation from one’s own body and from the environment and makes possible to use the body effectively within the environment. It denotes the importance of vestibular, tactile and proprioceptive input in the development of postural control, body schema, bonding, nourishment, coordination, emotional stability, language, and perception.Holistic ApproachIdentifies each person as a unique individual who behaves and must be understood as a unified wholeBehavioral FORIs applied to develop behavioral techniques and procedures that bring about behavior change and build functional skills necessary for the individual to function successfully in the environment.Cognitive Behavioral FORIs a type of psychotherapeutic treatment that helps patients understand the thoughts and feelings that influence behaviors.Motor Learning FORIs a set of process associated with practice or experience leading to relatively permanent changes in the capability for responding.Evaluation and AssessmentInterest checklistFIMSensory Integration Praxis Test (SIPT)Play HistoryPre-school Play ScaleAdditional Play/ Leisure AssessmentPlay Leisure InterventionChildhood Autism Rating Scale (CARS)Occupational Therapy ManagementIndividual therapyGroup therapyCaregiver Instructions ................
................

In order to avoid copyright disputes, this page is only a partial summary.

Google Online Preview   Download