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autism spectrum disorder (ASD)
neurodevelopmental disorder characterized by persistent deficits in social communication and interactions
restricted, repetitive, and inflexible behaviors, interests, and activities
what can affect outcomes of ASD
early diagnosis and intensive treatment
ASD DSM-5 criteria A
persistent deficits in social communication, social interactions - nonverbal behaviors, social reciprocity, and relationship skills
ASD DSM-5 criteria B
restricted, repetitive patterns of behavior, interests, or activities manifested by at least two of the following:
-repetitive motor movements, use of objects, or speech
-insistence on sameness, inflexible adherence to routines, ritualized paterns
-fixated interests abnormal in intensity or focus
-hypo/hyper-reactivity to sensory input
ASD DSM-5 criteria C
symptoms must be present in early development
ASD DSM-5 criteria D
symptoms must cause clinically significant impairment in important areas of functioning
ASD DSM-5 criteria E
not better explained by developmental delay or intellectual disability
early infantile autism
delayed speech, monotonous repetition of noises, excellent memory, dread of change, poor eye contact, awkward relationships
why has ASD prevalence increased since mid 1990's
possible reasons:
increased awareness
changes in he definition of ASD
earlier detection
more specialized developmental services
diagnostic substitutions
true increase in prevalence
ASD is 3-4x more common in
males
the ___ sibling is at greater risk for ASD
younger
up to 25% of ASD cases are associated with a
genetic cause
> genetic factors, epigenetic theory, increased rates in siblings, unequal sex distribution
ASD neurobiological factors
atypical neural connectivity seen on neuroimaging
increased head growth during infancy
increased brain size
gray and white matter volume
altered connectivity and processing
ASD prenatal/perinatal factors
prenatal- advanced parental age (>30-35), gestational diabetes/HTN/obesity
perinatal- toxin exposure, infections, low birth weight, meconium aspiration, pre-term delivery, low 5 minute apgar score
when does ASD present
first two years of life, may present in kindergarten or later
ASD clinical features
plateau of social skills after typical early development, lack of interest in socializing
absent or delayed speech
marked resistance to change
restricted interests
ASD is different from impairment in language development in that
the child may lack the intent to communicate
core symptom of ASD
sterotyped behaviors
hand/finger-flapping, rocking, toe-walking
lining up objects
echolalia
self-stimulating, self-injurious behaviors
ASD rituals and compulsions
eating food in specific order
always following same route from place-to-place
talks about the same topic or asks same questions repeatedly
lack of imaginative play/pantomime
rigid, repetitive play, exploratory play restricted
intolerance of deviation from expected rules
ASD restricted interests
strong attachment to one object
ASD atypical responses to stimuli
refusal to eat specific foods/textures
preoccupation w/ lights, colors, shiny objects
tactile resistance or defensiveness (light pressure bad deep pressure good)
indifference to pain
hypersensitivity to sound, lack of response to close sounds that would startle other children
ASD motor deficits
abnormal gait
clumsiness
toe walking
hypotonia
ASD physical finding
macrocephaly
ASD special skills
savant skills - calendar calculation, hyperlexia
ASD intellectual impairment
approx 30-45%
ranges in severity
impaired IQ in reasoning, verbal sequencing, and abstract skills, strengths in visuospatial and memory
ASD language impairment
common but not necessary for diagnosis
nonverbal
gestures only
single words or phrases
delayed language development
other neurodevelopmental conditions
ADHD, anxiety disorder, oppositional defiant disorder, depression, tic disorder, schizophrenia, learning difficulties
ASD keys for clinical practice
surveillance
screening
AAP recommends screening for ASD with
a screening test at 18-24 months
M-CHAT-R (modified checklist for autism in toddlers, revised)
role of PA in primary care
early identification
refer for comprehensive evaluation
refer for interventions
ASD intervention goals
maximize the ability of the individual to function in their environment
move the individual toward independence
improve the quality of life for the individual and family
ASD intervention modalities
behavioral and educational interventions
psychosocial interventions
psychopharmacologic interventions
complementary and alternative medicine (CAM)
ASD educational interventions
early education programs
IEP w measurable goals- minimum of 25 hrs/week x12 months per year
classroom placement guided by individual goals
applied behavioral analysis (ABA)
most widely used*
builds skills, decrease dysfunctional behaviors, teaches new skills, support use of learned skills at home, community, or school
targeted behavioral intervention
addresses specific behaviors- sleep disturbances, meltdowns, highly restrictive eating, elopement, aggression, or self-injurious behaviors
rule out other causes of these behaviors
starts w an assessment by a trained behaviorist
behavioral parent training
specialized parenting methods
promote skills development and adoption of daily living skills
prevent aggressive behaviors
reduce frequency of unsafe behaviors
can be part of ABA or separate intervention
psychosocial interventions
practice social, play, relationship skills, language skills
parents taught to be co-therapisets
guided practice on social interactions
CBT
psychopharmacological intervention for irritability
risperidone, aripoprazole
psychopharmacological intervention for hyperactivity/impulsivity
methylphenidate
psychopharmacological intervention for repetitive behaviors
SSRI, risperidone, valproate
CAM approaches in ASD
music therapy
pet therapy
yoga
melatonin
vitamin c, essential fatty acids, amino acids
ADHD
attention deficit hyperactivity disorder
neuropsychiatric condition characterized by inattention, impulsivity, and/or hyperactivity affecting preschoolers, children, adolescents, and adults
ADHD DSM-5 criteria A
persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development, as characterized by:
6 or more symptoms of inattention for at least 6 months, and negatively impact social/academic/occupational activities
and/or
6 or more symptoms for at least 6 months of hyperactivity-impulsivity with functional impairment
ADHD DSM-5 criteria B
several symptoms were present before age 12
ADHD DSM-5 criteria C
several symptoms are present in 2 or more settings
ADHD DSM-5 criteria D
clear evidence of functional impairment
ADHD DSM-5 criteria E
not related to another mental/psychiatric disorder
poor attention to detail, poor follow-through, difficulty with organization, easily distracted, and forgetful in daily activities are examples of
inattention
fidgeting, squirming, unable to play quietly, and talking excessively are examples of
hyperactivity
blurts out answers before question is completed, difficulty waiting their turn, interrupting others are examples of
impulsivity
ADHD predominant type
combination, inattentive, hyperactive-impulsive
ADHD partial remission
fewer than full criteria met for past 6 months with functional impairment
ADHD is more prevalent in
males
symptoms of ADHD present by
age 3
typically not diagnosed until school-age
ADHD genetic factors
approx 75% heritability
increased rate in males
ADHD neurochemical factors
structural brain differences, neurotransmitter imbalance (increased NE and decreased dopamine)
ADHD environmental factors
diet, food sensitivities, sleep deficiency may exacerbate symptoms
prenatal tobacco/alcohol exposure
premature/low birth weight
head trauma in young children
ADHD clinical features
hyperactivity, short attention span, distractability, perseveration, failure to finish tasks, inattention, poor concentration, impulsivity, emotional lability, aggression and defiance
ADHD diagnosis
comprehensive medical and psychiatric hx
direct observation of the child
school hx
teacher's report
assessment of social relationships
symptoms in at least 2 settings
ADHD differentials
anxiety disorder, bipolar I disorder, oppositional defiant disorder, learning disorder, hearing and visual impairment, absence seizure disorder
ADHD treatment
behavioral/psychological interventions
pharmacotherapy
criteria for ADHD pharmacotherapy
comprehensive CV-focused patient hx, family hx, physical examination
screening for bipolar
baseline height, weight, BP, HR
screening for substance abuse
first line treatment for ADHD
stimulants- methylphenidate, dextroamphetamine, dextroamphetamine/amphetamine salt
stimulants contraindications
known cardiac risk/abnormalities
non-stimulants for ADHD
good for those with hx of substance abuse or who respond poorly to stimulants
atomoxtine, alpha agonists (clonidine, guanfacine)
adverse effects of stimulants
decreased appetite, poor growth, dizziness, nightmares/insomnia, tics, suicidality/psychosis, diversion/miuse
drug holiday
d/c of stimulant medication on weekends or during summer
not routinely recommended and not for non-stimulants
ADHD psychosocial interventions
academic organization skills, parental training, behavior modification in school/home, CBT
oppositional defiant disorder (ODD)
enduring patterns of negativistic disobedient and hostile behavior toward authority figures
inability to take responsibility for mistakes
ODD generally [do/do not] resort to physical aggression or significant destructive behavior
do not
ODD clinical characteristics
losing temper, arguing with adults, refusing to comply with rules, deliberately annoying people, blaming others, angry, resentful, easily annoyed
ODD DSM-5 criteria
at least 6 months of 3 components:
angry/irritable modd
argumentative/defiant behavior
vindictiveness (at least twice in 6 months)
ODD is typically noted by
8yo
ODD comorbidities
pediatric bipolar disorder, anxiety disorder, ADHD
ODD risk factors
childhood physical or sexual abuse
overly harsh parenting
pattern of behavior seen in parents
unresolved conflicts from childhood fueling defiant behavior
other mental health diagnosis
ODD treatment
family intervention (primary treatment)
CBT
individual psychotherapy
conduct disorder
set of behaviors in a child or adolescent that deviate from age-appropriate norms
violation of the rights of others
social and academic difficulties
4 categories of behaviors in conduct disorder
physical aggression or threats of harm to others/animals
destruction of property
deceitfulness
frequent violation of rules
conduct disorder DSM-5 criteria
3 persistent specific behaviors over the past 12 months, with at least 1 of them present in the past 6 months
conduct disorder symptoms
bullying, physical fights, use of weapons, forces sexual activity, fire setting, breaking and entering, lies to obtain things, stays out past curfew, runs away overnight at least twice, truant from school before age 13
conduct disorder is MC in
males (4-12x more likely)
greater freq in children of parents with antisocial personality disorder and alcohol dependence
conduct disorder comorbidities
antisocial personality disorder, pediatric bipolar disorder, anxiety disorder, other learning differences, ADHD, OCD
parental factors of conduct disorder
harsh, punitive parents w severe physical and verbal aggression, chaotic home conditions, parental psychiatric disorders
sociocultural factors of conduct disorder
lack of supportive social network
increase exposure to substance use
chronic exposure to violence, physical, or sexual abuse and neglect
conduct disorder treatment
CBT to develop problem solving
psychopharmacologic interventions of conduct disorder
antipsychotics to reduce aggression- haloperidol, risperidone, olanzapine, quetiapine (atypicals better tolerated)
SSRIs target symptoms of impulsivity, irritability, mood lability