AUTISTIC DISORDERS

INTRODUCTION: -

The autism spectrum disorders (ASDs) are a group of clinical syndromes that have varying degrees of two fundamental elements: developmental delays and developmental deviations. Two-thirds of cases have evidence of atypical development before 12 months, and one-third of cases have a regression in speech and language before 18 months. Onset should occur before 30 months for all but childhood disintegrative disorder. The core syndrome includes deficits in social interactions and communication, along with presence of stereotyped behaviors, activities and interests. The prototypic ASD is autistic disorder. The other ASDs, including Rett disorder, childhood disintegrative disorder, Asperger disorder, and pervasive developmental disorder not otherwise specified (PDD NOS), share many of the core features of autistic disorder.

HISTORY

As early as 1867, Henry Maudsley, a psychiatrist, noted a group of very young children with severe mental disorders who had marked deviation, delay, and distortion in development. In 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.

EPIDEMIOLOGY: -

ASDs are relatively common, with prevalence rates in the range of two per 1000 children. Review of studies across cultures reveals similar rates of autistic disorder and consistent phenomenology, and ASDs are seen throughout all socioeconomic levels. Autistic disorder is four times more prevalent in males than females. The other ASDs seem to be similar to autistic disorder with a greater ratio of affected males, except in the case of Rett disorder, which is diagnosed almost exclusively in females. About half of children with autistic disorder are mentally retarded. Overall, intelligence levels range from profoundly retarded to above average in autistic disorder and the other ASDs. A notable exception is in childhood disintegrative disorder, in which all affected children are mentally retarded. In addition, follow-up studies of autistic disorder have demonstrated that mental retardation, when present, persists from the time of diagnosis onward. Intelligence quotients (IQ) tend to be stable over time and are felt to be one of the most important predictors of outcome in autism. Relative strengths lie in visuospatial skills and rote memory skills. A small number of autistic individuals have phenomenal abilities in particular areas such as in memory, calendar calculation or artistic endeavors. These so-called ‘savant’ talents are also seen in individuals with other developmental disorders.

ETIOLOGY: -

PSYCHOSOCIAL THEORIES: - Kanner's original speculation that emotional factors might be involved in the pathogenesis of autism led others to conclude that the condition was always caused by a “refrigerator” mother who was not responsive to the child's emotional needs. This view was particularly expounded by Bruno Bettelheim, who recommended intensive psychotherapy for mother and child or sometimes removal of the child from the family, in an attempt to remediate the basic deficit. Unfortunately, no evidence showed that such efforts were efficacious. A generation of parents was traumatized by the experience of being blamed for their child's condition.

BIOLOGICAL THEORIES: - Factors that suggested a biological basis for the condition included the high rate of mental retardation and seizure disorders and the recognition that various medical or genetic conditions are sometimes associated with the syndrome. The present consensus is that autistic disorder is a behavioral syndrome caused by one or more factors acting on the central nervous system (CNS).

GENETIC FACTORS: - The early impression was that genetic factors had no role in the pathogenesis of autism. The condition is relatively rare and patients did not seem to reproduce. Studies of twins indicated high concordance, especially for monozygotic twin pairs, with reduced concordance for fraternal, or dizygotic, same-sex twin pairs. Evidence also suggested that the high rates of cognitive difficulties in the unaffected monozygotic twin were associated with perinatal complications in the autistic co-twin, suggesting a perinatal insult related to autism in the face of some inherited liability for the disorder. In general, family studies have shown a rate of recurrence in families of approximately 2 to 3 percent of autism among siblings. However, this is 50 to 100 times the rate of autism in the general population. Moreover, parents who are given the early diagnosis and presentation of autism might consciously or unconsciously decide against having additional children. If this phenomenon, “stoppage,” is taken into account, the risk to siblings is even higher. Even when not affected, siblings are at increased risk for various developmental difficulties, including problems in language and cognitive development. It remains unclear whether what is inherited is a specific predisposition to autistic disorder or a more general predisposition to developmental difficulties. Recent work on the family members of autistic persons finds higher rates of mood and anxiety problems and increased frequency of social difficulties. Although the role of genetic factors in autistic disorder is now well established, specific modes of inheritance remain unclear.

OTHER MEDICAL CONDITIONS AND AUTISTIC DISORDER: - Autistic disorder has also been associated with other conditions with a strong genetic component, most notably fragile X syndrome and tuberous sclerosis. Physical signs of the condition include characteristic faces, enlarged testicles, associated mental retardation, and some autistic features. Behavioral difficulties include attention problems, impulsivity, and anxiety. Initially there was great enthusiasm for the notion that a fragile X chromosome might account for most cases of autism in males. In fact, only about 1 percent of individuals with autism are affected. This condition remains the second most important known chromosomal cause of mental retardation, after Down syndrome.

Tuberous sclerosis is characterized by abnormal tissue growth, or benign tumors (hamartomas), that affect various organ systems. This autosomal dominant disorder is associated with a range of phenotypes including mental retardation and seizure disorder. Studies find tuberous sclerosis in 0.4 to 2.8 percent of autistic individuals, a significantly higher rate than that in the general population. Rates of autistic disorder in individuals with this disorder are high.

PERINATAL FACTORS: - Several studies have shown increased rates of prenatal, perinatal, and neonatal complications in autistic disorder children. Much of the difference relates to observations that something unusual is noted about the child at birth, which may reflect the operation of both genetic and perinatal factors. The genetic predisposition to autistic disorder may interact with perinatal factors in producing the syndrome.

OTHER CAUSES: - Various reports have associated autistic disorder with a host of other conditions. However, these reports usually describe single cases rather than controlled studies. Several associations have been of interest, for example, autism associated with phenylketonuria, neurofibromatosis, and congenital rubella. However, when children with congenital rubella who were initially thought to have autistic disorder were followed over time, their autistic-like features tended to diminish; also these children exhibit a range of sensory deficits and mental retardation, both of which complicate diagnosis.

NEUROANATOMICAL MODELS: - Studies have focused on the cortical and subcortical systems related to language and cognitive processing, that is, on areas of the frontal and temporal lobes, as well as the neostriatum, sensory processing systems, and the cerebellum. A role for the medial temporal lobe was suggested by dilatation of the temporal horn in the left lateral ventricle observed in early studies using pneumoencephalogram. Subsequent findings by computed tomography (CT) and magnetic resonance imaging (MRI) have been somewhat less consistent. Some autistic individuals have enlarged brains and heads, whereas others (particularly those more retarded) have smaller heads. Neuropathological studies have suggested cellular changes in the hippocampus and the amygdala; increased cell packing has been seen in the amygdala. The cerebellum was the focus of some interest after reduced cerebellar size in the neocerebellar vermal lobules VI and VII was reported; however, other investigators have failed to replicate this finding. Some neuropathological studies have suggested decreased numbers of Purkinje's cells in the cerebellar vermis and hemispheres.

The severe deficits in language and communication that characterize autistic disorder have suggested the possibility of left cortical involvement to many investigators. Results of studies have, however, been equivocal. Since at least some functions affected in autistic disorder (prosody and language pragmatics) are more likely to be right-hemisphere related, a left hemisphere hypothesis cannot account for all deficits.

NEUROCHEMISTRY: - A number of studies have reported that approximately one third of children with autistic disorder have increased peripheral concentrations of the neurotransmitter serotonin. Despite much research the significance of this finding remains unclear since it is not specific to autism and the relation of peripheral concentrations to central concentrations of serotonin is unclear. Other work has focused on other neurotransmitters, such as dopamine. Hyperdopaminergic functioning of the brain might explain the over activity and stereotyped movements seen in autism. Administration of stimulants that increase dopamine concentration typically worsens behavioral functioning in autistic disorder. Agents that block dopamine receptors are effective in reducing the stereotyped and hyperactive behaviors of many autistic children.

IMMUNE THEORIES: - Some work has suggested a possible role of immunological factors in autistic disorder. There has been a suggestion that maternal antibodies directed against the fetus may be produced in-utero. There also have been reports of autism associated with viral infections.

DIAGNOSIS AND CLINICAL FEATURES: -

The DSM-IV-TR diagnostic criteria for autistic disorder are

A.          A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3):

1.            Qualitative impairment in social interaction, as manifested by at least two of the following:

a)      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

b)      failure to develop peer relationships appropriate to developmental level

c)      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)

d)     lack of social or emotional reciprocity

2.            Qualitative impairments in communication as manifested by at least one of the following:

a)      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)

b)      in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others

c)      stereotyped and repetitive use of language or idiosyncratic language

d)     lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

3.      Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:

a)      encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus

b)      apparently inflexible adherence to specific, nonfunctional routines or rituals

c)      stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)

d)     persistent preoccupation with parts of objects

B.     Delays 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.

C.     The disturbance is not better accounted for by Rett's disorder or childhood disintegrative disorder.

ICD 10 CRITERIA: -

F84.0 Childhood autism

DIAGNOSTIC GUIDELINES: - Usually there is no prior period of unequivocally normal development but, if there is, abnormalities become apparent before the age of 3 years.  There are always qualitative impairments in reciprocal social interaction.  These take the form of an inadequate appreciation of socio-emotional cues, as shown by a lack of responses to other people's emotions and/or a lack of modulation of behaviour according to social context; poor use of social signals and a weak integration of social, emotional, and communicative behaviours; and, especially, a lack of socio-emotional reciprocity. Similarly, qualitative impairments in communications are universal.  These take the form of a lack of social usage of whatever language skills are present; impairment in make-believe and social imitative play; poor synchrony and lack of reciprocity in conversational interchange; poor flexibility in language expression and a relative lack of creativity and fantasy in thought processes; lack of emotional response to other people's verbal and nonverbal overtures; impaired use of variations in cadence or emphasis to reflect communicative modulation; and a similar lack of accompanying gesture to provide emphasis or aid meaning in spoken communication. The condition is also characterized by restricted, repetitive, and stereotyped patterns of behaviour, interests, and activities.  These take the form of a tendency to impose rigidity and routine on a wide range of aspects of day-to-day functioning; this usually applies to novel activities as well as to familiar habits and play patterns.  In early childhood particularly, there may be specific attachment to unusual, typically non-soft objects.  The children may insist on the performance of particular routines in rituals of a nonfunctional character; there may be stereotyped preoccupations with interests such as dates, routes or timetables; often there are motor stereotypies; a specific interest in nonfunctional elements of objects (such as their smell or feel) is common; and there may be a resistance to changes in routine or in details of the personal environment (such as the movement of ornaments or furniture in the family home).    In addition to these specific diagnostic features, it is frequent for children with autism to show a range of other nonspecific problems such as fear/phobias, sleeping and eating disturbances, temper tantrums, and aggression.  Self-injury (e.g. by wrist-biting) is fairly common, especially when there is associated severe mental retardation.  Most individuals with autism lack spontaneity, initiative, and creativity in the organization of their leisure time and have difficulty applying conceptualizations in decision-making in work (even when the tasks themselves are well within their capacity).  The specific manifestation of deficits characteristic of autism change as the children grow older, but the deficits continue into and through adult life with a broadly similar pattern of problems in socialization, communication, and interest patterns.  Developmental abnormalities must have been present in the first 3 years for the diagnosis to be made, but the syndrome can be diagnosed in all age groups.    All levels of IQ can occur in association with autism, but there is significant mental retardation in some three-quarters of cases.   

Includes:  autistic disorder, infantile autism, infantile psychosis, Kanner's syndrome

PHYSICAL CHARACTERISTICS: -

On 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. This finding may suggest a disturbance in neuroectodermal development.

BEHAVIORAL CHARACTERISTICS: -

            QUALITATIVE IMPAIRMENTS IN SOCIAL INTERACTION

Autistic 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 LANGUAGE: -

Deficits 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. In contrast to normal and mentally retarded children, 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 noises- “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. Very young autistic children who can read many words, however, have little comprehension of the words read.

STEREOTYPED BEHAVIOR: -

In 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 AFFECT: -

Some 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 STIMULI: -

Autistic children have been observed to over respond to some stimuli and under respond to other sensory stimuli (e.g., to sound and pain). It is not uncommon for a child with autistic disorder to appear deaf, at times showing little response to a normal speaking voice; on the other hand, the same child may show intent interest in the sound of a wristwatch. 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 SYMPTOMS: -

Hyperkinesis 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 ILLNESS: -

Young 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. In some children, behavior problems and relatedness seem to improve noticeably during a minor illness, and in some, such changes are clues to physical illness.

INTELLECTUAL FUNCTIONING: -

About 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. About one fifth of all autistic children have a normal, nonverbal intelligence. 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. This finding suggests the importance of defects in language-related functions.

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).

DIFFERENTIAL DIAGNOSIS: -

Autism must first be differentiated from one of the other pervasive developmental disorders such as Asperser's disorder and pervasive developmental disorder not otherwise specified. Further, it must be differentiated from other developmental disorders, including mental retardation syndromes and developmental language disorders. Other disorders in the differential diagnosis are schizophrenia with childhood onset, congenital deafness or severe hearing disorder, psychosocial deprivation, and disintegrative (regressive) psychoses. It is sometimes difficult to make the diagnosis of autism because of its overlapping symptoms with childhood schizophrenia, mental retardation syndromes with behavioral symptoms, mixed receptive-expressive language disorder, and hearing disorders.

COURSE AND PROGNOSIS: -

Autistic 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 semi-dependence, 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. Although symptoms decrease in many cases, severe self-mutilation or aggressiveness and regression may develop in others. About 4 to 32 percent have grand mal seizures in late childhood or adolescence, and the seizures adversely affect the prognosis.

TREATMENT: -

The 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. Children with mental retardation need intellectually appropriate behavioral interventions to reinforce socially acceptable behaviors and encourage self-care skills. 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. These training programs, however, are rigorous and require much parental time. An autistic child requires as much structure as possible, and a daily program for as many hours as feasible is desirable.

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.

Current psychopharmacologic trials are under way to investigate efficacy of a variety of classes of agents on promoting social interactions and reducing disruptive behaviors in children and adolescents with autism and other pervasive developmental disorders. 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.

The administration of antipsychotic medication has been shown to be efficacious in the reduction of aggressive and self-injurious behavior. One early study indicated that 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 are known to have a lower risk of causing extrapyramidal adverse effects, although some sensitive individuals cannot tolerate the extrapyramidal or anticholinergic adverse effects of the atypical antipsychotic agents. The atypical antipsychotic agents include risperidone, olanzapine, quetiapine, clozapine and ziprasidone. Lithium can be administered in the treatment of aggressive or self-injurious behaviors when antipsychotic medications fail.

RESEARCH ABSTRACT

Chia-Hua Chu, Chien-Yu Pan conducted a study on “The effect of peer- and sibling-assisted aquatic program on interaction behaviors and aquatic skills of children with autism spectrum disorders and their peers/siblings”

The purpose of this study was to assess the effect of peer- and sibling-assisted learning on interaction behaviors and aquatic skills in children with autism spectrum disorders (ASD). Outcome measures were also examined in their typically developing (TD) peers/siblings. Twenty-one children with ASD and 21 TD children were assigned in three groups: peer-assisted (PG), sibling-assisted (SG), and control (CG). All participated in 16-week aquatic settings under three instructional conditions (teacher-directed, peer/sibling-assisted, and voluntary support). The main findings were that (a) PG and SG of children with ASD showed significantly more improvement on physical and social interactions with their TD peers/siblings during peer/sibling-assisted condition as compared to CG (p < 0.01), (b) PG and SG of children with ASD showed significantly more improvement on physical interactions with their TD peers/siblings (p < 0.01) and social interactions with their teachers and other children with ASD (p < 0.01) during voluntary support condition as compared to CG, and (c) all children with ASD and their TD peers/siblings significantly increased their aquatic skills after the program. The benefit for children with ASD as well as TD peers/siblings makes the use of TD peer/sibling assisted learning an even more desirable instructional strategy.

Highlights

► Improved aquatic skills were found for all groups of children after the program.

 ► Peer/sibling-assisted groups of children with ASD increased interaction behaviors.

► Benefits of using peer/sibling assisted techniques were observed for all children.

RETT'S DISORDER

In 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.

Available data indicate a prevalence 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.

ETIOLOGY

The 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.

DIAGNOSIS AND CLINICAL FEATURES

During 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.

Associated features include seizures in up to 75 percent of affected children and disorganized EEGs with some epileptiform discharges in almost all young children with Rett's disorder, even in the absence of clinical seizures. 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 PROGNOSIS

Rett'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.

TREATMENT

Treatment 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 DISORDER

Childhood disintegrative disorder is characterized by marked regression in several areas of functioning after at least 2 years of apparently normal development. Childhood disintegrative disorder, 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.

EPIDEMIOLOGY

Epidemiological data have been complicated by the variable diagnostic criteria used, but childhood disintegrative disorder is 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.

ETIOLOGY

The 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.

DIAGNOSIS AND CLINICAL FEATURES

The diagnosis is made on the basis of features that fit a characteristic age of onset, clinical picture, and course. Cases reported have ranged in onset from ages 1 to 9 years, but in most, the onset is between 3 and 4 years; according to DSM-IV-TR, the minimum age of onset is 2 years (Table 42-6). The onset may be insidious over several months or relatively abrupt, with abilities diminishing in days or weeks. 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 interactions, and the onset of stereotyped movements and compulsive behavior. Affective symptoms are common, particularly anxiety, as is the regression of self-help skills, such as bowel and bladder control.

To receive the diagnosis, a child must exhibit loss of skills in two of the following areas: language, social or adaptive behavior; bowel or bladder control; play; and motor skills. Abnormalities must be present in at least two of the following categories: reciprocal social interaction, communication skills, and stereotyped or restricted behavior. The main neurological associated feature is seizure disorder.

COURSE AND PROGNOSIS

The 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.

TREATMENT

Because of the clinical similarity to autistic disorder, the treatment of childhood disintegrative disorder includes the same components available in the treatment of autistic disorder.

ASPERGER'S DISORDER

Asperger'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.

ETIOLOGY

The 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.

DIAGNOSIS AND CLINICAL FEATURES

The 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 PROGNOSIS

Although little is known about the cohort described by the DSM-IV-TR diagnostic criteria, past case reports have shown variable courses and prognoses for patients who have received diagnoses of Asperger's disorder. The 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.

TREATMENT

Treatment of Asperger's disorder is supportive, and goals are to promote social behaviors and peer relationships. Interventions are initiated with the goal of shaping interactions so that they better match those of peers. Very often children with Asperger's disorder are highly verbal and have excellent academic achievement. 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 SPECIFIED

The DSM-IV-TR defines pervasive disorder not otherwise specified as severe, pervasive impairment in communication skills or the presence of stereotyped behavior, interests, and activities with associated impairment in social interactions. The criteria for a specific pervasive developmental disorder, schizophrenia, and schizotypal and avoidant personality disorders are not met, however. Some children who receive the diagnosis exhibit a markedly restricted repertoire of activities and interest. The condition usually shows a better outcome than autistic disorder.

TREATMENT

The treatment approach is basically the same as in autistic disorder. Mainstreaming in school may be possible. Compared with autistic children, those with pervasive developmental disorder not otherwise specified generally have better language skills and more self-awareness, so they are better candidates for psychotherapy.

APPLICATION OF THE NURSING PROCESS TO AUTISTIC DISORDER: -

BACKGROUND ASSESSMENT DATA : - (Symptomatology)

The symptomatology as well as knowledge about predisposing factors associated with the disorder, is important in creating an accurate plan of care for the client.

DIAGNOSIS / OUTCOME IDENTIFICATION

Based on data collected during the nursing assessment, possible nursing diagnoses for the client with autistic disorder include:

› Risk for self-mutilation related to neurological alterations

› Impaired social interaction related to inability to trust; neurological alterations

› Impaired verbal communication related to withdrawal into the self; inadequate sensory stimulation; neurological alterations

› Disturbed personal identity related to inadequate sensory stimulation; neurological alterations

The following criteria may be used for measurement of outcomes in the care of the client with autistic disorder.

The client:

©  Exhibits no evidence of self-harm.

©  Interacts appropriately with at least one staff member.

©  Demonstrates trust in at least one staff member.

©  Is able to communicate so that he or she can be understood by at least one staff member.

©  Demonstrates behaviors that indicate he or she has begun the separation/individuation process.

PLANNING / IMPLEMENTATION: -

NURSING DIAGNOSIS: Risk for Self-Mutilation RELATED TO: Neurological alterations OUTCOME CRITERIA: Client will not harm self.
NURSING INTERVENTIONS	RATIONALE
1)      Work with the child on a one-to-one basis. 2)      Try to determine if the self-mutilative behavior occurs in response to increasing anxiety, and if so, to what the anxiety may be attributed. 3)      Try to intervene with diversion or replacement activities and offer self to the child as anxiety level starts to rise. 4)      Protect the child when self-mutilative behaviors occur. Devices such as a helmet, padded hand mitts, or arm covers may provide protection when the risk for self-harm exists.	1)      One-to-one interaction facilitates trust. 2)      Mutilative behaviors may be averted if the cause can be determined and alleviated. 3)      Diversion and replacement activities may provide needed feelings of security and substitute for self-mutilative behaviors. 4)      Client safety is a priority nursing intervention

NURSING DIAGNOSIS: Impaired Social Interaction RELATED TO: Inability to trust; neurological alterations OUTCOME CRITERIA: Client will initiate social interactions with caregiver.
NURSING INTERVENTIONS	RATIONALE
1)      Assign a limited number of caregivers to the child. Ensure that warmth, acceptance, and availability are conveyed. 2)      Provide child with familiar objects, such as familiar toys or a blanket. Support child’s attempts to interact with others. 3)      Give positive reinforcement for eye contact with something acceptable to the child (e.g., food, familiar object). Gradually replace with social reinforcement (e.g., touch, smiling, hugging)	1)   Warmth, acceptance, and availability, along with consistency of assignment, enhance the establishment and maintenance of a trusting relationship. 2)   Familiar objects and presence of a trusted individual provide security during times of distress. 3) Being able to establish eye contact is essential to the child’s ability to form satisfactory interpersonal relationships.

NURSING DIAGNOSIS: Impaired Verbal Communication RELATED TO: Withdrawal into the self; inadequate sensory stimulation; neurological alterations. OUTCOME CRITERIA: Client will establish a means of communicating needs and desires to others.
NURSING INTERVENTIONS	RATIONALE
1)      Maintain consistency in assignment of caregivers. 2)      Anticipate and fulfill the child’s needs until communication can be established. 3)      Seek clarification and validation. 4)      Give positive reinforcement when eye contact is used to convey nonverbal expressions.	1)      Consistency facilitates trust and enhances the caregiver’s ability to understand the child’s attempts to communicate. 2)      Anticipating needs helps to minimize frustration while the child is learning communication skills. 3)      Validation ensures that the intended message has been conveyed. 4)      Positive reinforcement increases self esteem and encourages repetition.

NURSING DIAGNOSIS: Disturbed Personal Identity RELATED TO: Inadequate sensory stimulation; neurological alterations OUTCOME CRITERIA: Client will name own body parts as separate and individual from those of others.
NURSING INTERVENTIONS	RATIONALE
1)      Assist child to recognize separateness during self-care activities, such as dressing and feeding. 2)      Assist the child in learning to name own body parts. This can be facilitated by the use of mirrors, drawings, and pictures of the child. Encourage appropriate touching of, and being touched by others.	1)      Recognition of body parts during dressing and feeding increases the child’s awareness of self as separate from others. 2)      All of these activities may help increase the child’s awareness of self as separate from others.

EVALUATION: -

Evaluation of care for the child with autistic disorder reflects whether the nursing actions have been effective in achieving the established goals. The nursing process calls for reassessment of the plan. Questions for gathering reassessment data may include:

› Has the child been able to establish trust with at least one caregiver?

› Have the nursing actions directed toward preventing mutilative behaviors been effective in protecting the client from self-harm?

› Has the child attempted to interact with others? Has he or she received positive reinforcement for these efforts?

› Has eye contact improved?

› Has the child established a means of communicating his or her needs and desires to others? Have all self-care needs been met?

› Does the child demonstrate an awareness of self as separate from others? Can he or she name own body parts and body parts of caregiver?

› Can he or she accept touch from others? Does he or she willingly and appropriately touch others?

CONCLUSION: -

Autism is the one of the most drastic childhood disorders. Even though a complete cure is not yet possible for this disorder, still we can provide a whole lot to these individuals. The most effective treatment method is the use of multi disciplinary team and nurse being a vital member of this team can contribute a lot to the management of these children.

REFERENCES: -

1)      Townsend, Mary C., Essentials of Psychiatric Mental Health Nursing. 4^th Edition. F. A. Davis Company. Philadelphia. 2008. 530-535

2)      Michael G. Gelder. Juan J. Lopez-Ibor. Nancy Andreasen. Jaun J. Lopez-Idor. New Oxford Textbook of Psychiatry. Oxford University Press. London. 2003.

3)      Benjamin J. Sadock. Virginia A. Sadock . Kaplan & Sadock's Comprehensive Textbook of Psychiatry. Lippincott Williams & Wilkins Publishers; 7th edition. 2000

4)      Chia-Hua Chu, Chien-Yu Pa. The effect of peer- and sibling-assisted aquatic program on interaction behaviors and aquatic skills of children with autism spectrum disorders and their peers/siblings Research in Autism Spectrum Disorders Volume 6, Issue 3, July–September 2012, Pages 1211–1223 Available from http://dx.doi.org/10.1016/j.rasd.2012.02.003

5)      GILLBERG C. Autism and related behaviours Journal of Intellectual Disability ResearchVolume 37, Issue 4, pages 343–372, August 1993Available from: http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2788.1993.tb00879.x/abstract

6)      Schultz M. Judith., Videbeck L.Sheila. Lippincott’s Manual of Psychiatric Nursing Care Plans. 6^th Edition. Lippincott Williams & Wilkins. Philadelphia. 2002.

7)      Stuart GW, Laria MT. Principles and Practices of Psychiatric Nursing. Philadelphia: Mosby Publishers; 2001.

8)      Boyd MA .Psychiatric Nursing Contemporary Practice 2^nd edition. Philadelphia: Lippincott Publications; 2001