Lecture 18: Autism Spectrum Disorder and ADHD Flashcards
What must be present for ADHD?
- Persistent pattern of diminished sustained attention AND high levels of impulsivity or hyperactivity
- Present prior to age 12.
What are the 3 specifier types for ADHD?
- ADHD-PH, predominantly hyperactive/impulsive
- ADHD, combined type
- ADHD-PI, predominantly inattentive
What characterizes ADHD-PH?
- Excessive fidgeting/restlessness
- Hyperactivity
- Difficulty remaining seated and waiting
- Impulsivity
What characterizes ADHD-PI?
- Disorganized
- Forgetful
- Easily distracted
- Daydreamers
- Difficulty completing tasks
- AKA ADD.
What gender is ADHD more common in?
Males.
ADHD-PH is 4:1.
ADHD-PI is 2:1.
What are the contributing factors to ADHD?
- Biological
- Environmental (Controversial)
What are the biological components of ADHD?
- Impaired catecholamine metabolism in the brain
- Genetics (Increased risk with FHMX and 92% for identical twins)
What is the DSM-TV-R criteria for an ADHD diagnosis?
6+ symptoms from at least one category (inattentive or hyperactive) for at least 6+ months)
* Maladaptive and INCONSISTENT with developmental level.
* Some symptoms must be present prior to age 12.
* CLEAR FUNCTIONAL IMPAIRMENT IN 2+ SETTINGS. (home and school)
What symptoms fall under inattentiveness?
- Poor attention to detail or careless mistakes.
- Difficulty sustaining attention
- Does not seem to listen
- Does not follow instructions; fails to finihs tasks
- Poor organization
- Avoids or dislikes tasks needing sustained mental effort
- Loses necessary materials for tasks
- Easily distracted
- Forgetful
What symptoms fall under Hyperactivity/Impulsivity?
Hyperactivity
* Fidgets or squirms
* Leaves seat when remaining seated is expected
* Active in inappropriate situations
* Teens/adults: subjective restlessness
* Difficulty playing or engaging in leisure activities
* Always on the go
* Excessive talking
Impulsivity
* Blurts out answer before question is finished
* Difficulty waiting turn
* Often interrupts or intrudes on others.
What are the 3 non-pharmacological therapies for ADHD?
- Behavioral interventions
- Cognitive therapy (psychotherapy)
- Dietary modifications
When is behavioral intervention best for treating ADHD?
Preschoolers
It is only adjunct for older children because alone, it does NOT improve core symptoms.
When is cognitive therapy used for ADHD?
Adjunctive therapy for those with comorbid psych diagnoses.
It is NOT recommended as monotherapy.
What are the dietary modifications for ADHD?
- Elimination Diets (not routinely recommended)
- Fatty Acid supplementation (Not routinely recommended)
- Megavitamins, chelation, detox, mineral/herbal supplements. (no proven efficacy)
What are the pharmacological treatment options for ADHD?
- Stimulants (usually for younger children)
- Non-stimulants (Atomoxetine, Clonidine/Guanfacine/Antidepressants)
What is the criteria for RX therapy in children with ADHD?
- Confirmed diagnosis
- 6+ yrs old
- School cooperation
- No hx of substance abuse in family
- No hx of allergies, seizures, pervasive developmental delay, or tourette’s
What is the first-line therapy for ADHD?
Pharmacologic treatment!
Must prevent loss of learning for children!
What medications fall under methylphenidates?
- Ritalin
- Focalin
- Concerta
- Quillivant
What medications fall under amphetamines?
- Adderall
- Vyvanse
What drug schedule are stimulants?
Schedule 2!
No refills allowed.
What is the MOA of a stimulant?
Increases intrasynaptic levels of catecholamines (esp. dopamine.)
Methylphenidates block reuptake.
Amphetamines block reuptake AND stimulate dopamine release.
What is the ideal formulation for a stimulant?
ER (extended release), which will reduce adverse SE at the peak and reducing the crash at trough.
Reduces tachyphylaxis (reducing rapid tolerance)
What do stimulants not treat in terms of ADHD?
- Emotional problems
- Defiant behavior
- Learning impairment
- Reduced social skills.
How do we dose stimulants?
Lower doses and titrate slowly.
Drug holidays
What are the common SE of stimulants?
- Reduced appetite
- Insomnia/nightmares
- Emotional lability
- Weight loss and decreased height
- Tic development
What are the less common SE of stimulants?
- HTN
- Tachycardia
- Palps
- Raynaud’s
- Priapism (methylphenidates only)
- HA
- Dizziness
- N/V/D
- Psychosis or mania
What are some ways we manage stimulant SE?
- Taking with food
- Monitoring BP/HR
- Earlier dosing
- Different dosing
What are the CIs to stimulants?
- Allergy
- Hx of substance abuse
- Hyperthyroidism
- Glaucoma
- CV
- Neuro/psych (Tourette’s, use within 2 weeks of MAOI)
When are methylphenidates preferred?
Preschool age with better SE tolerance and less severe weight loss
Rarely has priapism.
About the same efficacy as an amphetamine.
What is the main difference in MOA between methylphenidates and amphetamines?
Amphetamines also increase dopamine release.
A for additional dopamine.
A for additional age (can’t be used in preschoolers)
Who do we avoid amphetamine use in?
Preschool aged children.
What SE does amphetamine generally lack?
Priapism.
What is the MOA of atomoxetine?
SNRI. (Not a controlled substance)
When is atomoxetine indicated?
- Intolerable to stimulants.
- History of tic disorder
- Risk of diversion with stimulants.
What is the main concern with atomoxetine?
4-6 weeks to start showing effect.
What are the SE of atomoxetine?
- Decreased appetite, N/V, abd pain, dyspepsia, weight loss
- CV
- Priapism
- Psychosis/SI/tics
- Hepatotoxic
What are the CIs of atomoxetine?
- Allergy
- MAOI within 14 days
- Glaucoma
- Pheo
- Severe CVD
When are alpha-2 adrenergic agonists indicated for ADHD?
Intolerable/failed stimulants AND atomoxetine.
What are the 2 alpha-2 adrenergic agonists used for ADHD?
- XR Clonidine
- XR Guanfacine
2 weeks to take effect.
MUST BE XR version!
What are the general SE of XR clonidine?
Sedating SE.
Hypotension (taper if d/cing)
Which alpha-2 adrenergic agonist has less SE?
XR Guanfacine
When are TCAs used for ADHD and what are the concerns?
4th line.
Cardiotoxicity could occur, so a pediatric cardiology consult may be required.
Can be used in a child with comorbid psych disorders.
Why is bupropion used for ADHD and what are the concerns?
Reduce aggressiveness and hyperactivity
SE: insomnia, anorexia, tics, SEIZURES
What is the MOA of bupropion?
Blocks reuptake of NE and dopamine.
What characterizes autism spectrum disorder?
- Deficits in social interaction and communication.
- Restricted repetitive patterns of behavior, interests and activities
- Must be present in early development
What disorders fall under autism spectrum disorder?
- Autistic disorder
- Asperger’s disorder
- Childhood disintegrative disorder
- Pervasive developmental disorder - NOS
Rett syndrome is NOT part of ASD.
What gender is ASD most common in?
Males
What is the general consensus regarding ASD etiology?
Altered brain development.
Family history tends to match ASD as well.
What is the epigenetic theory for ASD?
Abnormal gene is turned ON early in development that influences other genes.
What is usually seen in terms of structural brain abnormalities for ASD?
- Accelerated head growth in infancy
- Increased brain size
- Different neuronal firing patterns
- Abnormal serotonin synthesis
- Abnormal structure/organization
What environmental factors may affect ASD?
- Increased parental age
- Overall poorer perinatal/neonatal health
- Maternal metabolic conditions (DM, HTN)
No vaccine association.
When is ASD usually recognized by?
Age 2
What is the common factor in ASD patients?
Impaired social skills.
What are the common social difficulties ASD patients face?
- Delays and deviations in language
- Lack of social reciprocity (unaware of others)
- Lack of joint attention (don’t feel a need to share achievements with anyone)
- Non-verbal communication
- Poor social relationships (fail to develop and maintain peer relationships)
What are the restricted/stereotyped/repetitive behaviors in ASD?
- Hand flapping
- Twisting
- Rocking
- Swaying
95% of ASD patients show this behavior!
When is self-injurious behavior more common in ASD? Examples?
In cognitive impairment.
Involves
* Head-banging
* Face slapping
* Self-biting
What kind of changes in interest do ASD patients show?
- Insistence on sameness (difficult when chagning)
- Restricted interests (very niche or extreme fixation of unusual objects or inanimate objects)
How is sensory perception altered in ASD patients?
- Aberrant sensory perception in up to 99% of ASD patients!!
- Hyposensitivity, hypersensivitiy, or paradoxical responses.
Examples include
* Resistance to being touched
* Increased sensitivity to touch
* Refusal to eat foods with certain taste or textures
* Preoccupation with edges, spinning objects, etc.
* Visual inspection of objects with peripheral vision
What intellectual impairment do ASD patients generally present with?
Markedly deficient in VERBAL cognition, but their abilities improve with early deteciton and intervention.
Savant behavior can also be observed.
What language impairment tends to appear in ASD?
Receptive language is often delayed more.
Spoken language
What motor deficits are often in seen in ASD?
- Abnormal gait
- Clumsiness
- Hypotonia
Missing what childhood milestones might suggest ASD?
- No babbling by 9mos.
- No pointing/gestures by 12mos.
- Lack of orientation to name by 12mos.
- No single words by 16mos.
- Lack of pretend or symbolic play by 18mos.
- No spontaneous, meaningful two-word phrases by 24mos.
- Any loss of language or social skills at any age.
What are the screening tools for ASD?
M-CHAT-R/F (16-30mos)
Modified checklist for autism in toddlers
What are the next steps if a screening test for ASD is positive?
- Specialist referral
- Hearing Screening
- Lead Screening
- Genetic testing (maybe)
What are the non-pharmacologic treatments for ASD?
- Education/behavioral interventions
- Routine screening and preventative care
- Complementary/alternative medicine
When are pharmacologic treatments indicated for ASD?
Treating the behaviors themselves, not ASD.
- Stimulants (hyperactivity/inattentiveness)
- Antipsychotics (Maladaptive behaviors)
- SSRIs, alpha-adrenergics (Maladaptive behaviors)
- SSRIs (anxiety or depression or dysregulated mood)
What antipsychotics are most promising for ASD treatment of maladaptive behaviors?
- Risperidone
- Aripiprazole
What factors might suggest a good prognosis for ASD?
- Higher cognitive abilities
- Less severe symptoms
- Early identification
- Functional play skills
What factors suggest a poor prognosis for ASD?
- IQ < 70
- Lack of joint attention by age 4
- Lack of functional speech by age 5
- Seizures/comorbid psych disorders
- Severe symptoms
What is Rett Syndrome? Etiology?
Neurodevelopmental delay disorder caused by a sporadic mutation in MECP2 gene, resulting in growth deceleration, esp. brain tissue.
Who is Rett Syndrome more common in? Average lifespan?
Female, almost exclusively.
Average lifespan is 45y.
How does a classic case of Rett syndrome present?
- Uneventful pregnancy with normal development up to 6 months.
- Deceleration of head growth can appear starting at 2 months and by 12-18 months, loss of acquired fine motor, intellectual and communication abilities.
How does Rett syndrome present initially?
- Loss of interest in surroundings
- Little purposeful hand movements
How does Rett syndrome present later?
- Some recovery of non-verbal communication with improved eye contact.
- Followed by slow deterioration of gross motor functioning.
What are some general clinical findings for Rett syndrome?
- Loss of expressive language
- Motor dysfunction (stereotypic hand movements, gait disturbance, bruxism, drooling, rigidity, dystonia)
- Scoliosis
- Growth failure
- Epilepsy
- Fractures
- CV abnormalities
- Weird wakeful breathing patterns
- Sleep disorders
How do we treat Rett syndrome?
- Good nutrition
- Checking for fractures
- Antiepileptic drugs
- QT interval monitoring
- PT for scoliosis
- Sleep hygiene
- PT/OT for motor dysfunction.
What are the two types of Rett syndrome?
Typical and atypical.
Typical: Motor dysfunction and standard symptoms.
Atypical: All the additional clinical findings.