19. Neurodevelopmental Disorders

Question 1

Describe diagnosis: Autism Spectrum Disorder (6)

Answer 1

• persistent deficits in social communication and interaction, manifested in three areas:
  
  • social-emotional reciprocity: abnormal social approach and failure of normal back-and-forth conversation; reduced sharing of interests, emotions, or affect; failure to initiate or respond to social interactions
  • nonverbal communicative behaviours: poorly integrated verbal and nonverbal communication; abnormalities in eye contact and body language or deficits in understanding and use of gestures; total lack of facial expressions and nonverbal communication
  • developing, maintaining, and understanding relationships: difficulties adjusting behaviour to suit various social contexts; difficulties in sharing imaginative play or in making friends; absence of interest in peers
• restricted, repetitive patterns of behaviour, interests, or activities: manifested by ≥2 of: stereotyped or repetitive motor movements, insistence on sameness, highly restricted fixated interests, hyper-/hypo- reactivity to sensory input
• symptoms must be present in early developmental period
• symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning
• not better explained by intellectual disability or global developmental delay
• specifiers
  
  • current severity: requiring very substantial support, requiring substantial support, requiring support
  • ± language impairment, ± intellectual impairment, ± catatonia
  • associated with known medical or genetic condition or environmental factor

Question 2

Describe DDX: Autism Spectrum Disorder (4)

Answer 2

• neurodevelopmental: global delay, intellectual disability, language disorder, social communication disorder, learning disorder, developmental coordination disorder, stereotypic movement disorder
• mental and behavioural: ADHD, mood disorder, anxiety disorder, selective mutism, attachment disorder, ODD, conduct disorder, OCD, childhood schizophrenia,
• conditions with developmental regression: Rett syndrome, epileptic encephalopathy (Landau-Kleffner)
• other: hearing/visual impairment, abuse

Question 3

Describe treatment: Autism Spectrum Disorder (4)

Answer 3

• team-based:
  
  • school
  • psychologist
  • occupational therapist
  • physiotherapist
  • speech language therapy
  • pediatrics
  • psychiatry
• psychosocial:
  
  • family education and support
  • school programming
  • behavioural therapy
  • social skills training
• treat concomitant disorders such as ADHD, tics, OCD, anxiety, depression, and seizure disorder
• adjunctive pharmacotherapy (does not treat ASD itself)

Question 4

Describe adjunctive pharmacotherapy: Autism Spectrum Disorder (3)

Answer 4

• atypical antipsychotics (for irritability, aggression, agitation, self-mutilation, tics)
• SSRIs (for anxiety, depression)
• stimulants (for associated inattention and hyperactivity)

Question 5

Describe prognosis: Autism Spectrum Disorder (2)

Answer 5

• variable, but improves with early intervention
• better if IQ >60 and able to communicate

Question 6

Describe epidemiology: Attention Deficit Hyperactivity Disorder (4)

Answer 6

• prevalence: 5-12% of school-aged children
• M:F = 4:1, although girls may be under-diagnosed
• girls tend to have inattentive symptoms
• boys tend to have impulsive/hyperactive symptoms

Question 7

Describe etiology: Attention Deficit Hyperactivity Disorder (3)

Answer 7

• genetic: 75% heritability, dopamine candidate genes DAT1, DRD4
• neurobiology: decreased catecholamine transmission, low prefrontal cortex (PFC) activity, increased beta activity on EEG
• cognitive: developmental disability, poor inhibitory control, and other errors of executive function

Question 8

Describe diagnosis: Attention Deficit Hyperactivity Disorder (4)

Answer 8

• diagnosis requires: onset before age 12, persistent symptoms ≥6 mo, symptoms present in ≥2 settings (i.e. home, school, work), interferes with academic, family, and social functioning, and is divided into 3 subtypes
  
  • combined type: ≥6 symptoms of inattention and ≥6 symptoms of hyperactivity-impulsivity
  • predominantly inattentive type: ≥6 symptoms of inattention
  • predominantly hyperactive-impulsive type: ≥6 symptoms of hyperactivity-impulsivity
  • for older adolescents and adults (≥ age 17), ≥5 symptoms required
• does not occur exclusively during the course of another psychiatric disorder
• differential: learning disorders, hearing/visual defects, thyroid, atopic conditions, congenital problems (fetal alcohol syndrome, Fragile X), lead poisoning, history of head injury, traumatic life events abuse)
• specify current severity (mild/moderate/severe); if in partial remission (past dx, has not met full criteria >6 mo, still functional impairment present)

Question 9

Name core symptoms of ADHD (3)

Answer 9

• Inattention
• Hyperactivity
• Impulsivity

Question 10

Name inattention symptoms of ADHD (9)

Answer 10

• Careless mistakes
• Cannot sustain attention in tasks or play
• Does not listen when spoken to directly
• Fails to complete tasks
• Disorganized
• Avoids, dislikes tasks that require sustained mental effort
• Loses things necessary for tasks or activities
• distractible
• Forgetful

Question 11

Name hyperactivity symptoms of ADHD (6)

Answer 11

• Fidgets, squirms in seat
• Leaves seat when expected to remain seated
• Runs and climbs excessively
• Cannot play quietly
• “On the go”, driven by a motor
• Talks excessively

Question 12

Name impulsivity symptoms of ADHD (3)

Answer 12

• Blurts out answers before questions completed
• Difficulty awaiting turn
• Interrupts/intrudes on others

Question 13

Describe acronym of ADHD (8)

Answer 13

Observe child for “ATENTION” features

• Annoying
• Temperamental
• Energetic
• Noisy
• Task incompletion
• Inattentive
• Oppositional
• Negativism

Question 14

Name features: ADHD (4)

Answer 14

• difficult to differentiate from highly variable normative behaviour before age 4, but often identified upon school entry
• rule out developmental delay, sensory impairments, genetic syndromes, encephalopathies or toxins (alcohol, lead)
• increased risk of substance abuse, depression, anxiety, academic failure, poor social skills, comorbid CD and/or ODD, adult ASPD
• associated with family history of ADHD, difficult temperamental characteristics

Question 15

Describe tx: ADHD (3)

Answer 15

• non-pharmacological:
  
  • psychoeducation, behavioural management i.e. parent training, classroom management, social skills training
• pharmacological:
  
  • 1st line stimulants (methylphenidate, amphetamines)
  • 2nd line atomoxetine
  • 3rd line/ adjunct nonstimulants (guanfacine, clonidine, buproprion)
• for comorbid symptoms: antidepressants, antipsychotics

Question 16

Describe prognosis: ADHD (2)

Answer 16

• 70-80% continue into adolescence, but hyperactive symptoms usually abate
• 65% continue into adulthood; secondary personality disorders and compensatory anxiety disorders are identifiable