Child Development Autism Spectrum

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Child developmentBruce TongeAvril BreretonAutism spectrumdisordersThis article discusses the five red flags that are autismalerts in young children. These red flags can enable GPsto play a key surveillance role in determining which youngchildren might require further screening and referralfor an ASD assessment. Because ASDs are lifelong,neurodevelopmental disorders and symptoms change overtime. Therefore the GP has an ongoing role to support,educate and advise parents, other carers and the individualwith an ASD. Treatment and pharmacological interventionsare also discussed.Autism spectrum disorders (ASDs) are seriousneurodevelopmental disorders affecting approximatelyone in 160 Australians.1 In 1943, Kanner used theword ‘autism’ to describe children who were unable torelate to others, had delayed and disordered language,repetitive behaviours and a drive for sameness.2These three core symptoms have remained centralto the diagnosis of a group of disorders referred to as‘pervasive developmental disorders’ (PDDs) describedin both the Diagnostic and Statistical Manual of MentalDisorders, 4th edition, text revised (DSM-IV-TR)3 and theInternational Classification of Diseases (ICD-10).4 In 1997,Wing introduced the term ‘autism spectrum disorders’describing a continuum of conditions from aloof childrenthrough to ‘active but odd’ children who share an autistic‘triad of impairments’.5 The term has since been used todescribe symptoms of severity, changes that occur withdevelopment and the associated range of intellectualability.6 In line with emerging international practice, inthis article the term ‘autism spectrum disorders’ willrefer to autistic disorder, Asperger disorder and pervasivedevelopmental disorder not otherwise specified (PDDNOS) (atypical autism).Keywords: autistic disorder; child developmentaldisorders, pervasiveAutistic disorderBackgroundAutism spectrum disorders (ASDs) are seriousneurodevelopmental disorders affecting approximatelyone in 160 Australians. Symptoms are apparent duringthe second year of life causing impairments in socialinteraction, communication and behaviour with restrictedand stereotyped interests.ObjectiveTo increase the general practitioner’s awareness of thepresenting symptoms of ASDs and their associatedproblems in children, screening for ASDs, and theassessment process, treatment options and outcomes.DiscussionDiagnosis is clear by 30–36 months. However, symptoms areapparent during the second year of life causing impairments in threemain areas of functioning: social interaction communication, and behaviour with restricted and stereotyped interests (Table 1).Early signs of autistic disorderSymptoms and developmental markers of autistic disorder emergeduring the first 2 years of life. Developmental problems beforethe first birthday have been reported by parents, but the majorityexpress concerns regarding language development and socialrelatedness by the age of 2 years.7,8 Early developmental differencesinclude failing to have an anticipatory posture, such as reaching outto be picked up, and absent or reduced visual attention to social672 Reprinted from Australian Family Physician Vol. 40, No. 9, SEPTEMBER 2011

Table 1. Core features of autistic disorder (autism)Impaired social interactionProgressive abnormalities in interpersonal relationships Reduced responsiveness to, or interest in, people; child may appearaloof and usually have an impaired ability to relate to others Impaired ability in nonverbal social relating, eg. impaired use of facialexpression, eye contact and difficulty with use of gestures such aswaving goodbye and pointing to indicate social interest The ability to make friends is absent or distorted and the child isusually unable to engage in reciprocal social play with other children Difficulty understanding emotional expression; rarely develops ageappropriate empathy. Some social relating skills may develop overtime, but these skills are usually restricted or abnormalDelayed and disordered communicationStereotyped and repetitive use of language Echolalia – the repetition of words and phrases (often out of context).The child may immediately repeat words and phrases or repeatpreviously heard favourite phrases, such as advertising jingles ordialogue from movies Repetitive questioning and rituals and the creation of own words forobjects and people (neologisms) Literal understanding of spoken language and poor understanding ofsarcasm, metaphors or ironyDifficulties with the social use of language Unable to initiate or sustain a conversation Speaking too loudly or too softly for the context and using an unusualaccent or toneLack of a range of varied, spontaneous social imitative orpretend play Older children may engage in what appears to be imaginative play,however it is usually the repetition of learned activities or scenes fromfavourite moviesRitualistic and stereotyped interests and behavioursPreoccupations which are intense and focusedFascination with dinosaurs, football fixtures or weather forecasts andrepeated questioning or talking in a monologue about favourite topics,even if the context is inappropriateNonfunctional rituals and rigid routinesRepetitive play – lining up, stacking or sorting objects by colour orshape; lacking imagination and social elaboration with distress if play isinterrupted or the child is asked to move on to another activityResistance to change in routine or environment. For example, the childmay become extremely distressed if there is a new teacher at school,if furniture in the house is rearranged or if the child needs to wear newclothes or shoesThe child may try to control the play of other children and rigidly applytheir own inflexible version of the rulesRepetitive motor mannerismsHand flapping, finger flicking, tiptoe walkingPreoccupation with parts of objectsVisually attentive, eg. closely watching spinning wheels, fascinationwith shadows or reflections and studying collected objects such asstones or bottle-topsstimuli, smiling in response to others, vocalisationand exploration of objects.8 Regression andloss of communication and social skills are alsoobserved in 20–40% of cases.9 A recent Australianstudy of infants aged from 8 months found thatsurveillance of early signs of autism emerging byage 18 months led to a diagnosis of an ASD at 24months.10 Health professionals such as maternaland child health nurses and general practitionerscan play a key surveillance role in determiningwhich young children might require furtherscreening and referral for an ASD assessment. Thefive red flags,11 which are autism alerts in youngchildren, are listed in Table 2.Associated featuresAssociated features include unusual and restricteddiet, sleep disturbance, difficulty regulatingemotions and self injurious behaviour. Sensoryand perceptual abnormalities are also common,including sensitivity to sound and smell, lack ofresponse to pain, and preoccupation with visualor tactile stimulation. These features are notspecific to children with autism and may occur inassociation with intellectual disability.Intellectual abilityThe majority of children with autistic disorderhave an intellectual disability. Approximately 50%have severe intellectual disability and 30% mildto moderate disability. The remaining 20% haveintellectual abilities in the normal range and arereferred to as having ‘high functioning autism’(HFA). Cognitive assessment usually reveals ascatter of abilities with more difficulty in verbaland language skills and better performance invisual motor activities.Asperger disorderChildren with Asperger disorder (AD) aredifferentiated from children with autistic disorderbecause they do not have a delayed receptive andexpressive language development or cognitivedevelopment. In common with children withautistic disorder, children with AD have clinicallysignificant impairment in their social interactionsand social communication and restricted,repetitive and stereotype patterns of behaviourand interests. They may not come to clinicalattention until they are at preschool or primaryschool when their social difficulties and rigid, oddReprinted from Australian Family Physician Vol. 40, No. 9, SEPTEMBER 2011 673

Autism spectrum disorders FOCUSand repetitive behaviours become more noticeable and problematic.The key factor differentiating AD from HFA is language development,as those with HFA have delayed and disordered language.Despite clear differentiating diagnostic criteria, confusion anddebate continues regarding whether or not AD constitutes a separatedisorder. A proposed fifth revision of the DSM will specify only ASD,manifest as delays and abnormalities in social interactions and thepresence of rigid and repetitive behaviours. Asperger disorder willno longer be specified as a separate disorder and the nature of anylanguage disorder and profile of intellectual abilities will need tobe separately described.12 This debate highlights the continuingnecessity to describe the full range of symptoms, developmentalfeatures, language ability and profile of cognitive skills in order toplan an appropriate management program and provide a baseline tomonitor outcome.with an ASD. There are no cures and best practice treatment comprisesinterventions tailored to help the individual with an ASD to adapt aseffectively as possible to their environment.17Because of the serious and chronic nature of ASDs parents areunderstandably prey to claims of scientifically unsubstantiated andusually expensive treatment. There is emerging evidence that amultimodal program of early intervention tailored to address the profileof symptoms and abilities of each child is more likely to promotedevelopment, improve behaviour and reduce stress experienced bythe child and their family.18–20 For example, communication and socialskills can be enhanced by the use of visual prompts such as picturescripts. Timetables and specific social skills can be taught using socialbehaviour scripts, and for higher functioning children, role play, videomodelling and social stories. Common elements of an effective earlyintervention program for children with an ASD are listed in Table 3.Screening and assessmentBehavioural therapyGeneral practitioners can use several instruments to screen for anASD. These include: the modified checklist for autism in toddlers (M-CHAT), a parentcompleted checklist screening for autism for children aged 16–30months;13 and the developmental behaviour checklist (DBC), a parent-completedquestionnaire of emotional and behavioural problems that includesan autism screening algorithm for children aged 4–18 years14 andalso younger children aged 18–48 months.15A positive screen for autism is not diagnostic, but indicates thatreferral to a paediatrician, child psychiatrist or autism assessmentteam is necessary.Multidisciplinary assessment of development/cognition, language,play skills and sensory sensitivities contribute essential informationto help with planning appropriate management and early intervention.As part of the Australian Federal Government’s ‘Helping Childrenwith Autism Early Intervention Funding Program’, specialist MedicareASD diagnosis numbers and psychology and allied health Medicareassessment item numbers are available.16 This funding initiative assistsfamilies and carers of children aged 0–6 years diagnosed with an ASDand provides 12 000 funding. The eligibility criteria documentationrequires a copy of a definitive statement of diagnosis of a pervasivedevelopmental disorder as classified by the DSM-IV (ie. autistic disorder,Asperger disorder, PDD-NOS , Rett disorder or childhood disintegrativedisorder). The diagnosis cannot be suggestive, indicative or provisional.The definitive diagnosis must be made by a paediatrician,psychiatrist or a multidisciplinary team including a psychologist,speech pathologist and occupational therapist.There is some evidence that daily intensive behavioural therapy mayhave positive benefit, particularly with cognitive skills, but there isconsiderable variability in outcome and this intervention is not effectivefor some children with an ASD.21,22 Sensory integration training, basedon the theory that functional performance deficits are due to problemswith processing sensory information, is widely promoted but doesAfter the diagnosis – the role of the GPand treatmentAutism spectrum disorders are life-time neurodevelopmental disordersand symptoms change over time. The GP has an ongoing role tosupport, educate and advise parents, other carers and the individualTable 2. Early developmental surveillance. Redflags for an ASD13 Does not babble or coo by 12 months of age Does not gesture (point, wave, grasp) by 12 months ofage Does not say single words by 16 months of age Does not say two-word phrases on his or her own(rather than just repeating what someone says to himor her) by 24 months of age Has any loss of any language or social skill at any ageTable 3. Common elements of effective earlyintervention programs for children with ASDs An autism specific curriculum focusing oncommunication, attention to task, the development ofsocial, play, self help and motor skills and the trainingand modification of behaviour Supportive and aid assisted environments that arestructured and predictable and which help manageemotional and behavioural problems such as anxiety,rituals and resistance to change A comprehensive support plan for children intransition, eg. from preschool to primary school The inclusion of parents as collaborative partners inthe planning and implementation of interventions Education and skills training for parents, access toparent support groups and the provision of respitecare services and family supportReprinted from Australian Family Physician Vol. 40, No. 9, SEPTEMBER 2011 675

FOCUS Autism spectrum disordersnot currently have sufficient evidence to support its use as a primaryintervention method in ASDs. Specific sensory integration interventionssuch as the use of weighted vests and auditory integration traininghave been shown in empirical studies to be ineffective or even lead todeterioration in some children.23Diet therapyThere is no empirical evidence that diet or other mineral and/or vitaminsupplements are effective treatment. If a child has a lactose intoleranceor gluten enteropathy, treatment with an appropriate diet is likely tolead to some improvement in behaviour and relief of discomfort. MedicationThere is no specific medication for the treatment of autism. Medicationmay have a role in the treatment of associated emotional and behaviouralproblems such as anxiety and depression. Anxiety is a common comorbidcondition in individuals of all ages with an ASD. Depressive illnessbecomes more prevalent in adolescents with an ASD, perhaps in responseto the development of insight into their difficulties, increased educationaland social pressure and because of a potential increased geneticvulnerability in those with a family history of depression.24Management of anxiety and depression includes altering theenvironment to reduce stress and anxiety, creating the experience ofsuccessful achievement at school, psychological treatments such ascognitive behavioural therapy modified to take account of the child’scognitive abilities, and the use of the selective serotonin reuptakeinhibitor (SSRI) fluoxetine in some cases.Risperidone in low doses has been shown to be effective in thetreatment of disruptive, aggressive and self injurious behaviour inchildren with an ASD25 but should only be initiated by a specialistpaediatrician or child psychiatrist because of potentially seriousside effects such as dystonic reactions, weight gain and risk ofdevelopment of a metabolic disorder. Increased risk of epilepsy isreported, particularly early in childhood or again in early adolescence,and is associated with deterioration in the child’s emotional andbehavioural adjustment when poorly treated and uncontrolled.24Approximately 20% of children with an ASD suffer from severesymptoms of inattention, impulsiveness and hyperactivity. Stimulantmedication and other drugs used for the treatment of attentiondeficit hyperactivity disorder (ADHD) might be prescribed, butthese are usually not as effective and are more likely to causetroublesome side effects than in the general population.26 A sedativeantihistamine or melatonin might help manage persistent problemswith sleeping. Regular review of medication is necessary to respondto the development of any side effects and treatment responseshould be followed using a systematic behavioural record.Summary of important points Autism spectrum disorders affect approximately one in 160Australians. Symptoms are apparent during the second year of life causing676 Reprinted from Australian Family Physician Vol. 40, No. 9, SEPTEMBER 2011 impairments in social interaction, communication and behaviourwith restricted and stereotyped interests.GPs can play a key surveillance role in determining whichchildren might require further screening and referral for an ASDassessment.Red flags for autism are: does not babble or coo by 12 months ofage; does not gesture by 12 months; does not say single wordsby 16 months; has any loss of any language or social skill at anyage; and does not say two-word phrases on his or her own by 24months of age.There is emerging evidence that a multimodal program of earlyintervention, including parent education, tailored to address theprofile of symptoms and abilities of each child is more likelyto promote development, improve behaviour and reduce stressexperienced by the child and their family.Autism spectrum disorders are also associated with other mentalhealth problems such as anxiety, depression and ADHD, whichneed to be the focus of targeted management.The GP has an ongoing role to support, educate and adviseparents, other carers and the individual with an ASD.ResourceFactsheets on ASDs, including M-ChAT, the Developmental BehaviourChecklist, and early signs are available at ow.AuthorsBruce Tonge MBBS, MD, DPM, MRCPsych, CertChildPsych, FRANZCP,is Head, Discipline of Psychiatry, School of Psychology and Psychiatry,Monash University, Melbourne, Victoria. bruce.tonge@monash.eduAvril Brereton BEd, DipEd, PhD, is Senior Research Fellow, School ofPsychology and Psychiatry, Monash University, Melbourne, Victoria.Conflict of interest: none declared.References1.Wray J, Williams K. The prevalence of autism in Australia. Reportcommissioned by the Australian Advisory Board on Autism SpectrumDisorders, 2007.2. Kanner L. Autistic disturbances of affective contact. Nerv Child1943;2:217–50.3. American Psychiatric Association. Diagnostic and statistical manual ofmental disorders (text revision). Washington DC: American PsychiatricAssociation Press, 2000.4. World Health Organization. International classification of diseases No. 10:Classification of mental and behavioural disorders, Geneva: WHO, 1992.5. Wing L. Syndromes of autism and atypical developmental disorders. In:Volkmar FR, Paul R, Klin A, Cohen D, editors. Handbook of autism and pervasive developmental disorders. New York: John Wiley, 1997;148–70.6. Tonge B. Autism, autistic spectrum and the need for a better definition.Med J Aust 2002;176:412–3.7. DeGiacomo A, Fombonne E. Parental recognition of developmental abnormalities in autism. Eur Child Adolesc Psychiatry 1998;7:131–6.8. Chawarska K, Paul R, Klin A, Hannigen S, Dichtel LE, Volkmar FR. Parentalrecognition of developmental problems in toddlers with autism spectrumdisorders. J Autism Dev Disord 2007;37:62–7.9. Kobayashi R, MurutaT. Setback phenomenon in autism and long termprognosis. Acta Psychiatrica Scandinavica 1998;98:296–303.10. Barbaro J, Dissanayake C. Prospective identification of autism spectrum

Autism spectrum disorders FOCUSdisorders in infancy and toddlerhood using developmental surveillance:the social attention and communi

Keywords: autistic disorder; child developmental disorders, pervasive Autism spectrum disorders (ASDs) are serious neurodevelopmental disorders affecting approximately one in 160 Australians.1 In 1943, Kanner used the word ‘autism’ to describe children who were unable

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