Autism spectrum disorder is a complex developmental condition , behaviorally defined that includes a range of possible developmental impairments in reciprocal social interaction and communication , and also a stereotyped , repetitive or limited behavioral repertoire ( SIGN 2016 )
DSM -5 has created an umbrella term- ASD which now includes previously separately described conditions as-Autistic disorder ,Asperger syndrome,Childhood disintegrative disorder,Pervasive developmental disorders not otherwise specified,This reflects a better understanding of the matter , not a narrowly defined rare disorder of childhood onset but a well researched , common , heterogeneous lifelong condition. Aspergers – impaired reciprocal interaction and stereotyped behaviour but no delay in speech or cognitive function
Prevalence –Not considered rare any more – a highly prevalent condition Most common childhood onset neuro-developmental disorder A better awareness of ASD is seen amongst parents and clinicians now ( ↑↑ in detected prevalence in last decade ) A 2007 survey in England estimated that around 1 % adults have ASD ( can present at any age ) Prevalence estimates around 1 to 1.5 % More boys are affected ratio of 4 : 1 About 20-20 % of children with ASD develop epilepsy and 50 to 70 % have intellectual disability. Significant cost on society annual ~ 236 bn $s in US and 47.5 bn $s in the UK
No link has been found between MMR and autism- the Lancet article has been redacted.Strong genetic influences – ASD often runs in families Sibling with autism Birth defects associated with CNS malformations and / or dysfunction including cerebral palsy Gestational age < 35 wks Parental schizophrenia-like psychosis or affective disorder Maternal use of sodium valporate in pregnancy A learning ( intellectual) disability Attention deficit hyperactivity disorder Neonatal encephalopathy or epileptic encephalopathy including infantile spasms Chromosomal disorders such as Down’s syndrome Genetic disorders such as fragile X ( most commonly inherited cause of LD) Muscular dystrophy Neurofibromatosis Tuberous sclerosis
why is ASD important-Often associated with other conditions ( Autism plus ) eg Psychiatric conditions ( anxiety , ADHD , depression) Motor impairments ( eg hypotonia , apraxia , clumsiness , toe walking and gross motor delays ) Insomnia Intellectual disability Epilepsy Gastrointestinal problems Poor academic outcomes Long term outcomes can be variable from ○ institutionalization ( 24 hr support ) ○ living with community support ○ problems with employment ○ poor general health ○ social isolation Associated with premature mortality
DSM 5 diagnostic criteria ASD-Persistent deficits in social communication and social interaction , across multiple contexts – as ○ deficits in social-emotional reciprocity ○ deficits in non-verbal communicative behaviors ○ deficits in developing and maintaining relationships , appropriate to the developmental level Restricted , repetitive patterns of behaviour , interests or activities as manifested by atleast 2 of the 4 symptoms 1 stereotyped or repetitive speech , motor movements or use of objects 2 excessive adherence to routines , ritualized patterns of verbal or non verbal behaviour or excessive resistance to change 3 highly restricted , fixated interests that are abnormal in intensity or focus 4 Hyper-or hypo reactivity to sensory input or unusual interest in sensory aspects of environment Symptoms must be present in early childhood ( but may not become fully manifest until social demands exceed limited capacity ) Symptoms cause significant impairment in social , occupational or other areas of current functioning.
ASD trigger points-Delayed development of speech Poor development of imaginary play Difficulties with social skills ( starting school ) Poor non-verbal communication ( eye contact or gestures) Picky eating / unusual routines around food Difficulties occurring repeatedly around holidays ( change in routine ) Relationship difficulties ( making friends or relationship in family ) Difficulties around transition times ( change in school ) May present with other mental health difficulties Extremely stubborn ( often due to misinterpretations ) Extremes of behaviour : out of proportion to the antecedents Sensitive to sounds/ smell/ touch and other sensory inputs May present with physical health problems ( commonly headache, abdominal pain )
NICE autism recognition and referral-Consider ASD if concerns present about development or behaviour but beware that there may be other explanations Always take concerns expressed by parents , carers , or if appropriate the child or young person him/herself – seriously even if they are not shared by others If in doubt about your competence- seek advice NICE has produced a table of symptoms which can be used to aid diagnosis – available at https://www.nice.org.uk/guidance/cg128/chapter/ Appendix-Signs-and-symptoms-of-possible-autism.
Take into context child or young persons overall development That signs and symptoms may not always have been recognized If presenting for the first time -young persons coping mechanism and / or supportive environment may have previously masked the signs/ symptoms Do not assume that language delay is because English is not the 1st language or by early hearing difficulties Autism may be missed in children or young people with learning disability autism may be missed in children or young people who are verbally able ASD may be under-diagnosed in girls It may be difficult to get a full developmental hx for some children eg- looked after children or those in criminal justice system
ASD is a clinical diagnosis Multi-disciplinary teams which can include paediatricians , child psychiatrists, adult psychiatrists or psychologists , speech and language therapist , SENCO and other professionals would be engaged in establishing the diagnosis They would have received specific training in ASD diagnosis Diagnosis of ASD would be established by secondary care
Other causes of disordered developmental / learning difficulties/ intellectual disability or another neurodevelopmental disorder ( for the specialist team to decide / exclude ).Mental health disorders as ADHD , mood , anxiety , attachment , oppositional defiant , conduct, OCD, schizophrenia. Developmental regression including Rett syndrome , epileptic encephalopathy.Severe hearing or visual impairment , selective mutism or child maltreatment
Referral- ASD red flags ( American Academy of neurology and Child Neurology Society ) ○ no babbling or pointing or other gesture by 12 months ○ No single words by 16 months ○ No 2-word spontaneous ( not echolalic ) phrases by 24 months ○ Loss of language or social skills at any age High probability of ASD ○ under 3 -regression of language or social developmental milestones ○ children or young people of any age- persistent , severe or modest limitations or impairments of ADLs suggestive of ASD ○ parents , carers or the young person have significant concerns about their development or functioning ○ risk factors ASD ASD or a neurodevelopmental condition is suspected ○ over 3 yrs – regression in language developmental milestones ○ regression in motor developmental milestones at any age If concerns persist or new symptoms or signs develop after a period of watchful waiting ( review and collect more information from eg nursery , school during that period )
In the referral letter – provide when available ○ antenatal and perinatal history ○ developmental milestones ○ risk factors ○ relevant medical hx and investigations ○ information from previous assessment Early diagnosis is important as early intervention has the potential to improve function and reduce the cost of care ( single most costly health condition ) Behavioral interventions – mainstay of treatment for core deficits with structured high-intensity and autism directed interventions (umbrella term ABA- applied behaviour analysis ) No medication available to treat ASD , although if behavioral therapy fails medication may be considered for treatment of co-morbid conditions
Modified Checklist for Autism in Toddlers- available online. Communication and Symbolic behavior Scales Developmental Profile Infant / Toddler Checklist. Others – a repository of tools is available via Autism Research Centre website – Look under Tests
References Assessment , diagnosis and interventions for autism spectrum disorders SIGN 145 June 2016 Autistic spectrum disorder Catherine Lord et al Lancet 2018 ; 392-508-20 Autism Spectrum Disorder : Primary Care Principles Am Fam Physician . 2016 ; 94 (12) : 972-979 The Early Origins of Autism John N Constantino et al Autism spectrum disorder BMJ Best Practice Autism spectrum disorder : advances in diagnosis and management BMJ 2018 ; 361: k1674 Autism spectrum disorder in under 19s : recognition , referral and diagnosis NICE CG 128 Childrens Autism Pathway Leicestershire Partnership NHS Trust DSM-5 Autism Spectrum Disorder – accessed via https://depts.washington.edu/dbpeds/Screening%20Tools/DSM-5%28ASD.Guidelines%29Feb2013.pdf CKS NHS – Autism in children Diagnosis and Management of Autism spectrum Disorder in the Era of Genomics Elizabeth Baker et al Pediatr Clin N Am 62 ( 2015 ) 607-618 Autism in adults InnovAiT,0(0),1-8