Autism spectrum disorder (3/3 parts) Flashcards
What is the DSM criteria for autism?
A. Impairment in social interaction and communication (all 3 required)
- social and emotional reciprocity
- impairment of nonverbal behaviours
- failure to develop or maintain relationships
B. Restricted, repetitive patterns of behavior, interests, or activities, 2 of 4, currently or by history:
- stereotyped speech and behaviours
- insistence on sameness/resistance to change
- highly restricted, fixated interests
- hyper or hyporeactivity to sensory input
C. Signs or symptoms must be present in the early developmental period
D. Symptoms interfere with everyday functioning
What are strong risk factors for autism?
What are risk factors for autism?
male sex
positive family history
Genetic/familial
- specific genetic syndromes/risk variants (NF, TS)
- male sex
- first degree relative or other famhx of ASD
Prenatal
- older parental age (>= 35 years)
- maternal obesity, diabetes, hypertension
- in utero exposure to valproate, pesticide, traffic related air pollution
- maternal infections (rubella)
- close spacing of pregnancies (<12 mo)
Postnatal
- low birth weight
- extreme prematurity
What is the recurrence risk in younger siblings of children with ASD?
7-19%
What are red flags for ASD in following age groups: 6-12 mo 9-12 mo 12-18 mo 15-24 mo
6-12 mo
- limited smiles
- limited reciprocal sharing of sounds, smiles, facial expressions
- no eye contact
- limited response to name
- diminished, atypical, or no babbling/gesturing
9-12 mo
- repetitive behaviours
- unusual play
12-18 mo
- no single words
- absence of compensatory gestures
- lack pretend play
- limited joint attention
15-24 mo
- no 2 word phrases
Any age:
- caregiver concern
- developmental regression
What is the evidence for ASD screening?
Overall, unclear evidence for screening
* Potential benefit is reducing social inequalities in accessing specialized services
How to prepare for first office visit with child suspected of having ASD?
- consider scheduled phone call with parent in advance of first visit:
- medical & developmental hx with related family factors
- strengths and challenges
- sensory sensitivities that might influence behaviour within office environment
- strategies to optimize compliance during clinical visit
- consider “practice visit” to familiarize child with care setting
- schedule for first or last appt of day (fewer people in waiting room, minimize wait time)
- schedule longer appt than for typically developing child
- advise parents to bring favourite toys or foods to offer as distraction or reward
- re-arranging examination room to accommodate sensory sensitivities (quiet, with dim lights)
What age can ASD be diagnosed in?
2 yrs!
Many not diagnosed until 4-5 yrs
What are the 3 approaches toward ASD diagnostic evaluation?
choice depends upon pediatric care provider’s clinical experience and judgment, complexity of symptom presentation, psychosocial history
- Sole pediatric care provider independently diagnoses ASD
- this approach isn’t sufficient for accessing specialized services in some jursidictions - Shared care model
- clinician has joint responsibility with another health care provider for patient care (exchanges patient information & clinical knowledge) - Team-based approach
- diagnostic assessment performed by health care professionals in interdisciplinary or multidisciplinary team
- not always required and may prolong wait times unnecessarily
What is an interdisciplinary team?
team works collaboratively in integrated, coordinated fashion
What is a multidisciplinary team?
work independently from one another but share information, may reach diagnostic decision by consensus
What are the essential components of an ASD diagnostic assessment?
- provide a definitive (categorical) diagnosis of ASD
- provision dx can be made in ambiguous cases but child must be monitored carefully and referred for in-depth evaluation
- Explore conditions or disorders that mimic ASD symptoms and identify co-morbidities
- Determine overall level of adaptive functioning (strengths & challenges, personal interests)
What is the recommended interval between referral and assessment for ASD?
3-6 months
What are the elements of ASD diagnostic assessment?
- Records review
- Interviewing parents, family members, other caregivers
- Assessment for core features of ASD
- Comprehensive physical examination and additional investigations
- hearing & vision
- if indicated: EEG, MRI, metabolic testing, chromosomal microarray genetic testing for children with developmental disability, dysmorphic features, or congenital anomaly, blood lead levels - consider differential diagnoses and co-occurring conditions
- Establish ASD diagnosis
- Communicating ASD diagnostic assessment findings
- Comprehensive assessment for intervention planning
What percentage of kids with ASD are microcephalic?
20%
What do you do if ASD diagnosis cannot be determined at time of assessment?
- gather additional info from other sources
- observe child in different setting
- obtain second opinion from specialized tertiary ASD team
- Conduct repeat assessment (after therapy initiation or school entry) to clarify diagnoses
- if there are developmental concerns that don’t meet ASD criteria, refer for further assessment and services that address these concerns
What are 4 other considerations in diagnostic evaluation that can influence the ASD diagnosis?
- Age - possible to diagnose < 2 yrs
- Sex - diagnosed 4x more in boys
- Culture and language - racial/ethnic minorities diagnosed later
- Rural or remote regions - later ASD diagnosis
What are common differential diagnoses and co-occurring conditions in ASD?
Neurodevelopmental disorders
- ADHD
- GDD or ID
- language or learning disorder
- social (pragmatic) communication disorder
- stereotypic movement disorder
- Tourette’s disorder or tic disorder
Mental/behavioural disorders
- anxiety
- depression
- conduct disorder/ ODD
- disruptive mood dysregulation disorder
- OCD
- reactive attachment disorder
- schizophrenia
- selective mutism
Genetic conditions
- Fragile X syndrome
- Rett syndrome
- other genetic variants: (from ADHD & ASD statement) tuberous sclerosis, Williams syndrome, 22q11 deletion
Neurological and other medical conditions
- CP
- epilepsy
- Landau-Kleffner
- Mitochondrial
- Neonatal encephalopathy
What is the surveillance and follow-up care for co-morbidities in ASD?
- Dental
- GI - higher prevalence
- Nutrition - restricted diets; dietitian, behavioural therapist, OT, SLP, community feeding team
- Sleep - sleep hygiene and behavioural techniques, melatonin
- anxiety - CBT if cognitive abilities >= 8 yrs
- ADHD
- Depression - anticipatory guidance
What other assessments and therapies can be useful in ASD?
- SLP: improve verbal, nonverbal, social communication skills - offer alternative and augmentative communication aids
- psychologist - psychological assessment for cognitive, adaptive, learning skills, co-morbid conditions
- OT - assess functional challenges in ADL (including interventions to improve fine motor or sensory processing impairments)
- help children acquire self-care and play skills
- PT - strength gross motor skills, improve endurance, strength, balance, coordination, gait
- child & adolescent psychiatrist - for major psychiatric co-morbidity
What is the main evidence based treatment in ASD?
Behavioural interventions
- Applied behaviour analysis (ABA)
- integrate ABA-based models with approaches informed by developmental therapy. Ex understanding that affective engagement plays important role in developing social relationship
Which interventions in ASD are established?
- early intensive behavioural interventions are commonly used with young children (2-5 yrs) with improvement in adaptive skills, IQ, receptive and expressive language
- Parent-mediated interventions help parents be more responsive and engaged with helping children to acquire communication skills or manage challenging behaviours
- improved parent-child interactions, increased parental knowledge & skills when teaching social communication and managing hebaviour, gains in children’s communication skills, reduced autism-related symptom severity
- Social skills training improves social behaviour in 7-12 yr olds with average or above average intelligence
- CBT for anxiety disorders in children who are verbal
- intervention models have positive effects on parent-child interactions
What factors increase the risk for having challenging behaviours in ASD?
- communication deficits (making it difficult for child to express needs & wants)
- coexisting medical disorders - can cause pain or discomfort
- coexisting mental health problems or neurodevelopmental conditions
- physical (light, noise levels), social enviro (home, child care, school)
- changes in daily routines or personal circumstances
- developmental changes (puberty)
- bullying, other forms of maltreatment
What are first-line management strategies in ASD?
- evidence-based parenting programs or classes
- Provide ongoing medical treatment for co-occurring physical disorder and psychotherapeutic intervention for coexisting mental health problem
- counsel on strategies & interventions that positively impact child’s physical environments and social life
- use augmentative & alternative communication systems, devices or software
What are pharmacological treatment options in ASD?
- Challenging behaviours:
- 5 yrs & older: risperidone and aripiprazole
- Anxiety - SSRI (fluoxetine, sertraline)
- ADHD - methylphenidate or another stimulant
- alternatives: atomoxitine and alpha-2 adrenergic receptor agonists (clonidine or guanfacine) when combined with parent training in ADHD behavioural manamgenet
- Depression - antidepressants
- Sleep disturbances - melatonin
- Children with ASD can experience more medication side effects than those without ASD
- therefore “start low (often lower than published recommendations) and go slow”
Which families are more likely to try complementary and alternative medicine approaches?
- diagnosed at younger age
- severe ASD symptoms
- GI issues
- seizures
What are complementary & alternative medicine approaches in ASD?
- Therapies considered risky & ineffective:
- hyperbaric oxygen therapy
- chelation
- secretin
- herbal products
- antibiotics, antifungals, facilitated communication strategies considered ineffectve
- cannabidiol oil - insufficiency efficacy or safety data
- Safe with monitoring but no evidence
- vitamins B6, C, D, Mg, omega-3 fatty acids
- dietary: gluten, casein free diets
- massage therapy, music & expressive therapies, therapeutic touch, therapeutic horse-back riding, animal therapy, yoga, energy therapies (healing touch, Reiki)
What ASD factors are associated with positive outcomes?
- early identification
- timely access to behavioural interventions
- higher cognitive abilities
