indianjpediatr724343_115728.pdf

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Indian Journal of Pediatrics, Volume 72April, 2005 343

Symposium on Fest - Schrift for Late Dr. P.M. Udani

Correspondence and Reprint requests :Dr. Rajeshree Singhania,P.O. Box No. 53571, Dubai, UAE. Fax : 971-4-3341910.

Autism has attracted a remarkable degree of interest andconcern from clinicians and researchers alike, more so inrecent times. It is a complex neurodevelopmental disorderthat is behaviorally defined and is usually apparent fromearly childhood (Tuchman 2003, Volkmar, Sher & Cohen1985). It is characterised by profound deficits incommunication and social understanding and byritualistic and obsessional behaviours (Howlin 1998).Wing (1996) postulated that people with autism are alike

in that they share the triad of impairments that underliethe condition. The triad emphasises the fundamentallysocial nature of the disorder. There is a co-occurrence ofimpairments in social interaction, social communicationand social imagination, flexible thinking and imaginativeplay.

A WIDE CLINICAL SPECTRUM

The syndrome of autism can occur in individuals of alllevels of ability and a tremendous range exists in theexpression of the disorder. These diverse expressionswithin and across individuals present particularchallenges for assessment and treatment.

Family studies point to a range of deficits in first-degree relatives of autistic children in the following threeareas social dysfunction, communication impairmentand stereotyped behaviour (Fombonne et al1997). Theyidentified lesser variants of the disorder or broadphenotypes of autism in first-degree relatives. The mildvariant of the broad phenotype included abnormality in

Autistic Spectrum Disorders

Rajeshree Singhania

Singhania Chi ldren's Cli nic, Dubai , UA E

only one area communication or social interaction orstereotyped behavior. A severe variant includedabnormalities in at least two of these three areas.

Wing (1981) used the term Autistic Continuum andlater (1996) the Autistic Spectrum Disorder (ASD),allowing for a broader definition of autism encountered inthe disorder. The use of these terms (continuum andspectrum) emphasised the wide range of socialdifficulties. The solitary withdrawn child with little

emotional expression is at one end. The passive child whodoes not resist social interaction lies in the middle of thecontinuum. At the other extreme end of the continuum isthe child who interacts actively but in an odd waywithout relating to the needs or concerns of the personsapproached.

The degree of social dysfunction is further complicatedby developmental changes within the child. From awithdrawn and isolated toddler, the individual may endup as an active but odd teenager. However, theunderlying problem still exists and impacts variousaspects of social and learning skills. (Jordan 2000).

Different levels of cognitive, communication andlanguage abilities further complicate the varying clinical

pictures of ASD. The verbal, bright but socially inept childin mainstream school contrasts markedly to a non-verbal,withdrawn and isolated child who is in a special centre.Although an association between cognitive ability andseverity of autism has been indicated (Shah & Wing,1983), social impairment has been seen to occur in ASDindividuals with normal or superior intellectualfunctioning. It is from the highly able autistic individualsthat we have learnt more about the disorder (Grandin T,Williams D). Atypical Autism, Pervasive Developmental

Abstract.Autistic spectrum disorders is a complex developmental disorder with social and communication dysfunction at itscore. It has a wide clinical spectrum with a common triad of impairments - social communication, social interaction and social

imagination. Even mild or subtle difficulties can have a profound and devastating impact on the child. To be able to providesuitable treatments and interventions the distinctive way of thinking and learning of autistic children has to be understood. The

core areas of social, emotional, communication and language deficits have to be addressed at all levels of functioning. Theimportant goals of assessment include a categorical diagnosis of autism that looks at differential diagnosis, a refined precise

documentation of the child's functioning in various developmental domains and ascertaining presence of co-morbid conditions.The interventions have to be adapted to the individual's chronological age, developmental phase and level of functioning. The

strategies of curriculum delivery and teaching the child with autism is distinctive and includes presence of structure to increase

predictability and strategies to reduce arousal of anxiety. [Indian J Pediatr 2005; 72 (4) : 343-351]E-mail: [email protected].

Key words : Autistic spectrum; Pervasive developmental disorders; Language disorders; Early intervention


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344 Indian Journal of Pediatrics, Volume 72April, 2005

Disorder, PDD NOS, Aspergers Syndrome, SemanticPragmatic Disorders are the various labels given to the

differing pictures of autism spectrum disorders (Wing1997).

EPIDEMIOLOGY AND PREVALENCE

Recent studies have yielded prevalence estimates that aremuch higher than those reported earlier (Bryson 1997,Wing 1993). From 4 to 5 per 10,000 persons (Lotter 1966),the prevalence seems to have increased to 1 per 1000(Bryson, Clark and Smith 1988, Sugiyama & Abe 1989) to1 in 131 in Granite bay, California, 1 in 138 in Kingston,UK and 1 in 151 in Brick Township, New Jersey (Shattocket al 2002). Broader criteria used for inclusion, anincreasing awareness of its expression in both cognitively

impaired and cognitively capable individuals andexhaustive screening of geographically definedpopulations maybe the reasons that have yielded higherprevalence rates (Bryson 1997). However, there are anumber of recent studies, most with small samples, andseveral reports from school systems that found evenhigher rates of autism (Shattock et al2002)

Higher prevalence rates are seen among the malegender compared to female gender (Lotter 1966, Wingand Gould 1979) and among first-generation immigrants(Gillberg et al.,1987, Wing 1980). Wing and Gould (1979)also noted hat 30% of the disabled population sufferedfrom autism.

THE NATURE OF THE PROBLEM

Autism defines children at a behavioural level but isassociated with multiple etiologies. However, all havedeficits in social cognition and communication.

Social Impairment

The hallmark of ASD is disturbance of socialdevelopment. As Wing (1981) noted, it is the underlyingsocial difficulties, which impacts interpersonal

relationships and communication and contributes toinflexibility of behaviour and thinking. The resultingsocial impairment leads to socially inept behaviour in thechild with ASD.

At the superficial level this implies seemingly odd orirrational behaviours. At a more profound level, socialdifficulties encompass the individuals understanding ofhow the world functions. This is caused by the fact thatmany of the children are unable to be part of social unitslike mother-child, family, friends and community. Thisinability reduces opportunities for social transactions,which further affect social development. Hence arelatively small social disability has a pervasive effect onlater social development and gradually becomesprofound.

The social impairment impacts almost every aspect ofthe childs functioning, whatever his/ her intellectualability (Howlin 1998). It can lead to inappropriate andunacceptable behaviours in various social situations,causing the child to be ostracised. It can also lead to

deficits in socialisation and difficulty in interacting withpeople and making friends.

In normal development social responsiveness is seenas early as 2 3 months when a baby smiles at itscaregiver. It responds to its own name by 7 10 monthsand waves goodbye by 9 12 months. The perceptualability enables children to learn how to respond socially.At 18 24 months they perceive when they are hurtingothers and either repeats the act to check on the responseor comfort them by kissing, stroking or appeals for help.They start to perceive social rules and who transgressesthem. They also become aware of others feelings andattempt to comfort others in distress. Around this agethey start using humans as social tools appealing forhelp, using their perception as a reference point and drawtheir attention to others breaking rules. Toddlers alsodevelop a pro social act of sharing.

The whole gamut of social responses appears to bedisrupted in ASD, even when they maybe functioningwell in other areas of life like self-help skills or academictasks.

Understanding others is an important mechanism bywhich humans blend together in groups, families andcommunities. It allows learning of self-control co-operation and collaboration. Individuals with ASD havedifficulties understanding others from a very young age.

As early as one year children are aware of anger in

others and show distress whilst 18 month olds rarelyignore disputes in others and by 3 years, children drawattention of adults to transgressions of peers. Two yearolds can recognise and empathise distress in others whilstthree year olds are also aware of what situations gave riseto that distress (Jordan 2000). Children with ASD do notdistinguish well between objects and people and alsobehavior between people. They do not perceive peoplesfeelings and appear to lack empathy.

They fail to develop a sense of oneself or personal

Fig 1.Number of Cases Cumulative Growth

(U.S. School Years 19922003)

Graph Source: www.fightingautism.org Data Source: ww.ideadata.org and www.cdc.gov/nchs/

PercentCumula

tiveGrowth(%)


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agency (Russell 1996). In the same way they do notdevelop the concept of others and their selves asdescribed by Frith (1989) in the concept of Theory ofmind.

Theory of mind or mentalising ability is a complexsocial skill (Jordan 2000). It differs from superficial socialcompetence, which includes behaviours like gaze contact,imitation and turn- taking. Theory of mind is theawareness a child develops that other people have avariety of mental states. These include attributing mentalstates such as knowing and believing to other peopleand also to oneself. Individuals with ASD, not only do notunderstand what others are thinking and feeling, they donot even understand their own thoughts and feelings(Baren-Cohen et al1985)

Communication Problems

Language and communication problems are one of thedefining characteristics of autism (Coupe et al1998). Therange of language and communication skills varies

tremendously across the continuum. It is clear that thefundamental problem lies with communication ratherthan language per se. Non-verbal forms ofcommunication are affected and even when language ispresent, its use as a communication tool remains poor. Inthe normal developmental pattern, communicationprecedes language and is the prime reason for learning it.This pattern is disrupted in autism leading to delayed anddeviant language development. It is not mere acquisitionof language structure, which may in fact be welldeveloped, but rather its use and meaning, which isaffected (Coupe et al1998).

Early communication consists of shared attention,

imitation, turn-taking, social organisation, mutual gaze,communication intention and comprehension. Thesebehaviours are deviant or delayed in autism.

Shared attention is seen very early. Around 9 14months infants show clear signs of wanting to share otherpeoples attention, indicating joining points of reference(such as the light or fan). Not only do they indicate theobjects but also look at people at the same time as if tocheck whether they too are interested and perhapslooking at the same thing (Mundy and Sigman 1989).This is something that children with autism cannot do.

The process of imitation is crucial in developing anunderstanding of others (Bremner 1988). Imitation is theearliest form of social interaction. True imitation occurs

when the child can decide which action or sound is to becopied. It is at this level of imitation that the childunderstands the concept of others at a cognitive level.Imitation is almost always active and creative. It is nevera perfect copy. Imitation is also fundamental to thedevelopment of the representation of language (Piaget1951). Individuals with ASD may have a parasiticquality to their imitation i.e. they copy the perceptualfeatures of the behaviour exactly.

Robson (1967) noted that mutual gaze was a

fundamental form of human communicative behaviourand lent a framework to other modalities ofcommunication. The child and adult spend periods ofintense eye-to-eye and face-to-face communication(Brazelton 1979). The reflexive gaze is modified into gazecoupling which is a turn-taking interaction that resembleslater gaze patterns seen in mature conversation (Jaffe et al1973). Individuals with ASD, whatever the intellectuallevel, show disruption of mutual gaze in earlydevelopment. Gaze avoidance or excessive/inappropriateuse of gaze are part of the clinical picture of ASD.

A variety of social organisational strategies are used forcommunication (Coupe et al1998). These are needed forinitiating, maintaining or terminating a communicationlike calling out, question/answer, breaking offconversation or repairing misunderstandings. Skillsacquired through infancy through interpersonalinteractions underpin the skills needed for theseconversational and discourse management (Coupe andJolliffe 1988). Individuals with ASD lack strategies to

organise communication. It is probably more evident inhigh functioning verbal individuals who are capable ofconversation.

The turn taking that is seen in a social interaction ordialogue starts with the adult leaving space for children tofill their turn with sounds or actions. Individuals withASD have difficulty with turn taking at a very early age,both in vocal interactions and physical tasks.

Communication intention is the reason or goal ofcommunication in the mind of the speaker i.e. the whyone communicates. Children initially use situational cuesand gestures to assist comprehension. The comprehensiongradually depends more and more on linguistic input.Some examples of communicative intentions are drawingsomeones attention to an object or making a request orgiving information (Okane and Goldbart 1998). Othersinclude gaining attention for communication like a tap onthe shoulder, drawing attention of a person by saying ohlook, and intention to regulate social contact. Withimpairment in perception and mentalising ability,individuals with ASD lack communication intentions,which adds to their social impairment.

Comprehension in context starts in the first 6 monthsof life where infants start to read the signals andexpressions of other peoples behaviour. It graduallydevelops into a highly developed area of expertise, whichallows individuals to abstract meaning from the adults

intonation patterns, voice quality and facial expressions.The individuals with ASD will have difficulty in all the

areas of early communicative behaviours affecting theirlanguage development, socialisation and their ability toexpress themselves.

Language Problems

Though it is communication rather than language, whichis impaired in autistic spectrum disorders, language isaffected in most individuals with ASD. Lord and Rutter


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(1994) estimated that around half of all children fail todevelop functional speech. Spoken language ability inautism can range from muteness to an apparent facility.Even with good expressive vocabulary there is apersistent and pervasive impairment in thecommunicative use of language, and in understandingcomplex or abstract concepts (Lord and Rutter 1994). Thetypical speech in autism tends to be non-productive,echolalic, pedantic and uttered in a monotone. Its use toshare experiences, express feelings or emotions, or toconverse is restricted to high functioning ASD orAsperger Syndrome and that to in a limited way.

Cognitive impairments

The ability to plan, to arrange events in order and topostpone the need for gratification is referred to asexecutive abilities or executive functions. They arenecessary for the development of time concepts,motivation and common sense (Ozonoff et al1991).Happe (1994) pointed out that executive functions are

deficient in Autistic Spectrum Disorders. This resulted intypical behaviour in individuals with ASD, which wasrigid, inflexible and perseverative. They found it difficultto apply their large store of knowledge meaningfully,often were impulsive and narrowly focused on detail(Cumin et al1998).

All humans, from a very young age demonstrate aninherent drive to seek out meaning, pattern andcoherence from details presented to them - CentralCoherence (Frith 1989, Happe 1994). In autism,individuals fail to see the picture as a whole and tend tofragmentary processing. The failure to draw togetherdiverse information to construct higher-level meanings in

context led to specific problems (Frith 1989). Theseincluded the insistence on sameness, attention to detailrather than whole, insistence on routine, obsessionalpreoccupations and existence of special skills.

Memory Impairments

Memory processing differs qualitatively in individualswith autism. Impairment in the Theory of Mind leads toan inability to reflect on their own thinking. Hence,remembering facts related to personal events pose aproblem but other memory remains unimpaired andmaybe exceptional. People with autism find it difficult toremember episodes where there is a personal elementincluded and when there is no external cueing. They find

it difficult to remember him or herself performing actions,participating in events and possessing knowledge andstrategies (Jordan and Powell 1995). The experiencing selfin normal development is able to search his memory anddoes not need specific cues. This peculiar memory-processing problem i.e. personal episodic memory isimpaired in ASD

Problem Solving Difficulties

Jordan and Powell (1995) noted, that problem solving was

difficult for these children because their poor self-awareness prevented them from reflecting on their ownabilities to solve problems. They also said that the highlyattention specific style of thinking of autistic childrenadversely affect their problem-solving ability. This leadsto inflexible attention, which cannot be readily harnessedor moulded to the need of the situation. Theiroversensitive and idiosyncratic perception faculties alsoaggravate this problem-solving impairment.Overreactions to situations cause panic attacks anddifficulty in problem solving.

Emotional Problems

Individuals with ASD fail to understand others mentaland emotional states, which results in other peopleappearing confusing. This leads to children with ASDwithdrawing and failing to engage with people. Hobson(1993) believes that due to a biological deficit, they fail toperceive emotions in others and thus cannot empathise orrelate to them. The ability to recognise, interpret and

express emotions is rooted in early perceptions and socialdevelopment. Children with ASD have emotions and feelbut have difficulty expressing and communicating them.The inability to relate to others affects development offriendships. Moreover, emotional immaturity results inuninhibited expression of emotions, especially negativeones. This results in an inability to control emotionaloutbursts, which can be disruptive. High functioningASDs are more likely to suffer from its consequences astheir emotional development is far below their intellectualand academic ability, making it more unacceptable(Jordan and Powell 1995).

Emotional immaturity also affects learning, as children

with ASD are unable to motivate themselves to learn.They do not see the need to please teachers or parents andhence will not learn a task just to please them, a featureseen to aid learning in non-autistic children. The stress ofnew tasks may lead to emotional outbursts andwithdrawal instead of stimulating learning.

Thus impairment in emotional development affectssocialisation, behaviour and learning in children withASD.

Assessment

The important goals of assessment include a categoricaldiagnosis of autism that looks at differential diagnosis, arefined precise documentation of the childs functioning

in various developmental domains and ascertainingpresence of co-morbid conditions.

A categorical diagnosis of autism and placement in itssubtypes has important implications for intervention,prognosis and legal rights (Cohen & Volkmar 1997).However, a rigorous assessment of its core symptoms psychological assessment, communication and behaviourare critical to treatment.

There is a need to evaluate functioning in intellectualabilities both verbal and performance, social competence,


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receptive and expressive language skills and social use oflanguage and self care and other abilities of daily living toplace an individual in a broader developmentalframework (Cohen & Volkmar 1997).

There is a higher risk of certain co-morbid conditionsthat occur with autism. These require to be identified andneed clinical attention. Co-morbidity includes medicaldisorders like PKU, Fragile X, Tuberou Sclerosis, RettDisorder and Downs syndrome. Epilepsy is seen to occurin 25% of individuals with autism and needs to be ruledout. Psychiatric and behavioural difficulties likehyperactivity, obsessive-compulsive phenomena, self-injury, stereotypy, tics and affective symptoms may needpharmacological intervention (Brasic et al1994, McDougleet al1995, Ghaziuddin Tsai & Ghaziuddin 1992).

The evaluation should include a careful developmentaland health history especially of the first 3 years of life.Real examples of behaviours like eye contact, response toname, finger points to share attention etc often providebetter descript ions (S chop ler & Re ic hler , 1972 ). A

diagnostic examination should include observation of the

TABLE3. Some Medications Used

Type of Drug Examples Indications Principal Undesirable Effects

Stimulants Methylphenidate, pemoline Attention deficit-hyperactivity Irritability, aggressiveness,stereotypies, tics, sleeplessness;in rare cases, hepatotoxicity ofPemoline

Noradrenergic agents Propranolol, clonidine Explosive behavior, aggressiveness Depression, nightmares,(beta-blockers and (e.g., patch) hypotension, dry mouth sleepiness,2 agonists)

Serotonin-reuptkae Fluoxetine, clomipramine, Perseveration, obsessions, rigidity, Dry mouth, sleep disturbances,

Inhibitors and agonist, sertraline, fluvoxamine aggressiveness, depression constipation,agitation, restlessness,serotonin syndrome

AntidepressantsDopamine-receptor Haloperidol, risperidone Aggressiveness, destructiveness, Sedation, affective blunting, dystonia

blockers Chlorpromazine, olanzapine parkinsonism, tardive andself-injury withdrawal dyskinesias

Anxiolytics Buspirone Anxiety Sedation, restlessness (rarely),gastrointestinal symptoms

Opioid antagonists Naltrexone Self-injury, stereotypy Long-term effects unknownMood stabilizers Lithium, valproate, carbama- Mood lability, aggressiveness Tremor, weakness, need to monitor

zepine blood levels

Anticonvulsants Valproate, carbamazepine, la- Epilepsy; possibly autistic Drowsiness, ataxia, rashes;motrigine, vigabatrin regression with epileptiform EEG hyperphagia and tremor with

(including electrical status valproateepilepticus in slow- wave sleep)without clinical seizures

HormonesSleep aids Melatonin Sleep disturbances possibly Long-term effects unknownGlucocorticoids Corticotropin, prednisone autistic regression with epi- Obesity, hypertension, infections,

leptiform EEG (including electrical psychosisstatus epilepticus in slow-wave sleep) without clinicalseizures

Source: Handbook of Autism and Pervasive Developmental Disorders (Eds) Cohen D., Volkmar F. (1997)

child during structured and unstructured periods. Socialdeficits are more obvious during unstructured times andin school recess. Areas of observation and inquiry shouldinclude (a) social development (b) communication (c)response to environment (d) play skills (e) self awareness(f) motor behaviours like hand flapping and (g) behaviourproblems. Some of the diagnostic instruments that areavailable are, Childhood Autism Rating Scales (CARS)The Autism Diagnostic Interview (ADI-R) (Lord et al1994), Autistic Continuum, The Autism DiagnosticObservation Schedule (ADOS Lord et al1989). Of thesethe most comprehensive available are ADOS and ADI,which together provide a structured detailed interviewand an observation method to assess objectively anindividuals social ability, communication skills andbehaviour.

Psychological assessment should be done usingstandardised procedures. Nonetheless, minor clinicalmodifications may be necessary as the usual verbalinstructions and social reinforcements may not be enough

in children with autism (Klin et al.,1997). The results


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obtained must be viewed with caution and made explicitin the report. Some of the tests that are used areWechslers Preschool and Primary Scale of Intelligence(WPPSI-R 1989), Wechslers Intelligence Scale forChildren (WISC-III, 1991), Kaufman-Assessment Batteryfor Children (K-ABC Kaufman & Kaufman 1983) andLeiter International Performance Scale (Leiter 1980).Such tests provide acceptable measures of currentdevelopmental level but have poor predictive value andstability over time (Klin et al.,1997). Children with autismhave strengths in visual perceptual tasks like puzzles andweakness in conceptual and reasoning tasks. Thisobservation highlights the importance of emphasizing thelatter in management programmes.

Similarly play, communication and social andemotional functioning should be assessed usingstandardised batteries.

INTERVENTIONS

Early Intervention is the KeyA new report from the National Research Council of theNational Academies USA (2003) encourages promotion ofroutine early screenings of children for autistic spectrumdisorders, much like they are promoted for vision andhearing problems. Early diagnosis is important becauseprompt educational intervention is the key to greaterprogress in childrens mastery of fundamentalcommunication, social and cognitive skills. Deficits injoint attention, affective reciprocity and theory of mindcan be identified early and then specific intervention canbe implemented. Early intervention uses the plasticity ofthe brain to maximize potential. An intensive

instructional program wherein the child is engaged insystematically planned, and developmentally appropriateeducational activity toward identified objectives is crucial.The priorities of focus include functional spontaneouscommunication and social instruction deliveredthroughout the day in various settings, cognitivedevelopment and play skills, and proactive approaches tobehaviour problems. To the extent that it leads to theacquisition of childrens educational goals, youngchildren with an autistic spectrum disorder shouldreceive specialized instruction in a setting in whichongoing interactions occur with typically developingchildren.

There are many behaviors that ordinary children learnwithout special teaching, but that children with autismmay need to be taught (Klin et al,1992). A preschool childwith autism may have learnt to count backwards on hisown, but may not learn to call to his mother when he seesher at the end of the day without special teaching. A highschool student with autism may have excellent computerskills but not be able to decide when she needs to washher hair. Educational goals for these students, as part ofaddressing independence and social responsibility, often

need to address language, social, and adaptive goals thatare not part of standard curricula. Understanding thenature of autistic spectrum disorder and the full range ofdevelopmental sequel that follow from the deficits assistthe development of teaching approaches and curricularcontent that address each of these areas. The exact skills,which need to be taught, will depend on the degree ofimpairments seen in that child. However, they shouldcover the main developmental areas affected in autism.These include social interaction, communication andlanguage and flexible and creative thinking.

Apart from the curricular content, teaching strategiesalso need to take account of specific psychologicaldynamics in both the social and cognitive processing oflearning in autism. Robinson (1998) summarized theprinciples of more effective teaching strategies that takeinto account the difficulties with social interaction,communication and imaginative/creative thinking andthe relative strengths in visual skills, visual memory,good focus in repetition, precision and consistent

accuracy. The strategies included low arousal, specificallyfocused stimuli, directive interventions, reductions intransitioning and structured and cued teaching with thepresentation being more visual.

Apart from education, other intervention programmesto enhance social and communication development areavailable for children with autism. The two highlydebated approaches are the traditional behaviouralapproach (Lovaas 1981) and the relationship-baseddevelopmental model (Greenspan 1992). The former isbased on learning theory principles. Intervention entailsspecificity of purpose, goals and activity structure. Skillacquisition reflects the mastery of a series of discrete sub-skills. The model emphasizes precision and organisationduring instructions. There is complete adult controlduring the sessions. Through prompting and shapingtechniques and immediate reinforcement of correct targetresponses, the adult shapes the childs learning. Some ofthe criticisms raised to this form of intervention are theartificial nature of the instructional setting, an emphasison specific child responses to adult directed interactionsand the lack of clear link between the instruction andsocial use of the skill (Quill 2000). Koegal and Koegal(1995) remarked that discrete trial approaches arecounterproductive for spontaneous, self-initiated socialand communication skills.

The relationship-based developmental model is

framed within the study of typical child development.Intervention emphasizes the development of skillsthrough active exploration and positive socialinteractions. It emphasizes naturally occurring situationsas the context for instructions, child directed activities,and the adults role as merely a facilitator. The childsinternal motivation propels active engagement and theresponses of the adult to the childs initiations andinterests lay the foundation for the developmentalprocess. Internationality and meaning are assigned to the


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childs behaviour (Greenspan 1992). The drawbacks of therelationship-based model are the open ended quality ofthe instructional environment and reliance on the childsinitiations to guide the interactions. In autism, wherechildren may lack the skills like joint attention, imitationand the desire to interact, this model may not be beneficial(Quill 1995).

Quill advocates combining behavioural anddevelopmental approaches for a more ecelectic and BestPractice approach. Creating motivating, meaningfulactivities in natural environments to promotespontaneous social and communication skills along withspecialised supports to compensate for the various coreskills deficit are recommended.

CONCLUSION

Autistic spectrum disorder is a complex developmentaldisorder with social and communication dysfunction at itscore. Wing (1996) showed that a wide spectrum of

conditions have a common triad of impairments. Deficitsinclude those in social communication, social interactionand social imagination (flexible and creative thinking).Since autistic spectrum disorders occur on a continuum,the clinical expressions differ widely. They can rangefrom a severely handicapped child to a child with normalintelligence attending mainstream school. Hence personswith superior intellect with ASD will also have social andcommunication difficulties. Even mild or subtledifficulties can have a profound and devastating impacton the child. To be able to provide suitable treatments andinterventions the distinctive way of thinking and learningof autistic children has to be understood. The core areas of

social, emotional, communication and language deficitshave to be addressed at all levels of functioning. Theinterventions have to be adapted to the individualschronological age, developmental phase and level offunctioning. Nonetheless, there should be a generalemphasis on teaching social cognition, on learningcommunicative and social skills and on enhancingmotivation. In addition to the content of the interventionprogramme, the strategies of curriculum delivery andteaching the child with autism is distinctive and requiresconsideration at all levels of the spectrum. The generalprinciples include presence of structure to increasepredictability and strategies to reduce arousal of anxiety.

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Department of Genetic Medicine,Sir Ganga Ram Hospital

Rajinder Nagar, New Delhi 110060Telephone Nos : Direct 011-25861767; EPABX 25861463/25735205 ext. 1382.

Fax No. 011-25861767 or 26589434. E-mail : [email protected]

Genetic Tests For Pediatricians

Biochemical Tests :

1.GalactosemiaGALT enzyme plus Beutler spot test (Heparin blood)

2.Succinylacetone + Fumaryl acetoacetate for Tyrosinemia(Heparin blood)

3. Organic acids (urine) + Mass Tandem spectroscopy Blood (Filter paper specimens

4. Aminoacid chromatography,quantitative (Urine/Plasma)

5. Metabolic screening-urine (Aminoacid chromatography + chemical tests)

6. Cystic fibrosis Immunoreactive trypsin (less than 3 months age)

7. Enzyme assaysfor Metachromatic leukodystrophy, Gm1 gangliosidosis,

Tay Sachs disease, Pompie's Gaucher's disease, Krabbe's Niemann Pick's. MPS VII. Hurler's Hunter syndrome Price per enzyme variable

DNA Diagnostics Beta Thalassemia,Mutation analysis (family)/XMN polymorphism/Prenatal dx

Duchenne Muscular Dystrophy,Deletions/Prenatal diagnosis/carrier screen

Cystic fibrosis, 25 mutationsincluding 508/508 only

Spinal muscular atrophyDiagnosis/Prenatal diagnosis

Hemophilia A and B,Carrier screening/Prenatal diagnosis

Mitochondrial disorders (MELAS, MERRF, Leighs, NARP).... Variable

Many other disorders

For Prenat al D i agnosis Enquire for Requir ement s & Cost

Chromosomal Studies

Blood/dysmorphic child/Bone Marrow for leukemias

Amniotic cell cultures/Chorionic villus samples

Fragile X/Ataxia telengiectasia/Prader Willi syndrome

F.I.S.H. studies for Micro-deletion syndromes/Quick Prenatal diagnosis

Muscle Biopsy staining with Dystrophin (3 regions), Sarcoglycan antibodies (, ,, ,)Merosin, Dysferlin and Dystroglycan antibodies (Requires freezing of biopsy)

Send samples by Courier to Reach within 48 hours. No Refrigeration required. Molecular diagnosis5 ml EDTA blood; Biochemical Enzyme assays 8 ml EDTA blood; Chromosomal studies 3 mlHeparin blood; Aminoacids/Organic acids 15 ml of morning specimen of urine

For further information Contact Staff of Dept. of Genetic Medicine in Hospital, 9.30 a.m. to 5 p.m.Telephone Nos. EPABX 25861463/25735205-ext. 1382 (Dr. Verma), 2115 (Molecular),2112 (Biochemical), 2111 (Cytogenetics).


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