BH E3- Neurodevelopmental Disorders

What are specific learning disorders (SLD)?

*MC diagnosed neurodevelopmental disorder

Persistent difficulty learning in specific academic skills → reading (MC), writing expression, mathematics

What is the ability to obtain, process, and understand basic health information and services needed to make appropriate health decisions?

Health literacy

What is the individual level of skills needed to understand & use quantitative health information (ex dose, frequency)?

Health numeracy

What effect do SLDs have on health?

Poor health literacy & numeracy → health care disparities → poor health outcomes → inc in mortality

The following RF are for what condition?

• FHX of a learning disorder

• prematurity

• neurological conditions (seizures, tics)

• chronic medical conditions (encephalopathy, chromosomal, DM, HIV, FAS)

• CNS infx, irradiation, or TBI

• ADHD, autism, anxiety

• compromised school factors (English 2nd language, lack of materials, poverty, poor nutrition)

SLD

What are signs of SLD?

Poor school performance & academic difficulty, negative self concept, behavior problems, poor social interaction

What is dyslexia?

SLD w/ impairment in reading → can’t read at level expected for age & intelligence or has difficulty w/ comprehension & accuracy

Who is dyslexia MC in?

M > F, school aged children

*dec when native language words sound the way they look

The following symptoms are associated with what condition?

• Reluctance to read aloud - slow reading w/ effort

• Difficulty with reading comprehension, speed & accuracy

• Guesses words, reversing letters, uses sight words

• inability to reconstruct words after sounding out

SLD with impairment in reading (Dyslexia)

What is SLD with impairment in written expression?

Problems with physical act of writing (dysgraphia), grammar, spelling, & developing writing ideas

When does SLD in written expression onset?

2nd grade or later

*after the onset of SLD in reading

The following symptoms are associated with which condition?

• noticeable & persistent poor spelling

• grammatical & punctuation errors

• difficulty copying & forming letter shapes, not taking, & organizing thoughts on paper

• poor handwriting → mix of cursive & print

• excels in spoken & visual presentations

SLD with impairment in written expression

What is dyscalculia?

SLD with impairment in math → difficulty performing mathematical operations

When does SLD w/ impairment in mathematics (dyscalculia) onset?

Kindergarten - 2nd grade

The following symptoms are associated with which condition?

• finger counting, difficulty counting & recognizing math symbols

• struggles with word problems & math language (more than, less than)

• difficulty following sequences, performing operations

• math anxiety

SLD with impairment in mathematic expression (dyscalculia)

What are red flags for SLDs?

Parental concern about school related problem (behavior, poor peer interactions, learning), teacher recommends special ed evaluation, report cards indicate learning difficulty, FHx learning problems, Hx developmental delay, neurological or genetic condition

What is the goal of medical evaluation & treatment of SLDs?

ID & address medical, neuro, behavior conditions that cause or co-occur

Early intervention programs before age 5 to improve outcomes & prevent secondary emotional problems

*40% of kids tx at age 17 read normally at 14

What is part of the PE in a medical evaluation of SLD?

General observation, growth development, hearing & vision assessment, neuro exam

The following criteria is associated with what condition?

• Difficulties in ≥ 1 of the following areas ≥ 6 mos:

  • reading, written expression, mathematical reasoning

• Academic skills below expected age

  • confirmed by standardized testing (or hx impaired learning if over 17)

• LD begin during school age, but may not manifest until academic demands exceed the pt’s limited capacity (timed testing, heavy load)

• NOT due to- uncorrected visual/ auditory acuity, mental or neuro d/o, psychosocial factors, language barrier, lack of instruction

SLD

What informal testing can be done in the diagnoses of SLD?

Review developmental milestones & incorporate questions about reading, language, math

Review educational hx- grades, testing, attendance

Hearing & vision screening

When should children be able to identify rhyming words and letters by sound?

Preschool & kindergarten

When age should phonics be mastered?

2nd grade

At what age should articulation be 100% intelligible?

4 y/o

What is the treatment for SLD?

IEP: individual/ small group instruction, accommodations, multimodal teaching

Medical: tx physical disorder, ADHD, autism if present

Psychosocial: behavior/ cognitive mod therapy, social skills training, counseling

What is the role of the practitioner when managing SLDs?

Assist in eval & coordinate care, request LD eval by school district, explain disability to patient/ family, advocate for pt, mediate bt family & school, serve as consultant & info resource for parent

What is a condition that affects children & adults who show a persistent pattern of inattention, impulsivity, & hyperactivity?

ADHD

When does ADHD onset & who is it MC in?

M > F, 3-4 y/o

What is the etiology of ADHD?

Genetics, neuroanatomical aspects, neurochemical (DA), developmental factors, psychosocial factors

Which subtype of ADHD?

• ≥ 6 sx (≥ 5 if 17 y/o) for 6 mos:

• careless mistakes in school work

• difficulty sustaining attention in tasks or play

• does not listen when spoken to

• fails to complete tasks

• difficulty organizing tasks

• avoids tasks that require mental effort

• often loses things necessary for tasks

• easily distracted

• forgetful in daily activities

Inattentive

Which subtype of ADHD?

• ≥ 6 sx (≥ 5 if 17 y/o) for 6 mos:

• often fidgets

• leaves seat when expected to remain seated

• inappropriate running & climbing

• unable to play & engage quietly

• often on the go / “driven by a motor”

• talks excessively

• blurts out answers

• often interrupts & intrudes on others

Hyperactivity & impulsivity

What additional criteria must be met for ADHD DSM-5 diagnosis?

Onset of sx before age 12

Sx present in ≥ 2 settings (home, work, school, clubs)

Interferes w/ or reduces quality of functioning

Sx do not occur exclusively during course of psychotic d/o (schizophrenia)

Which aspect of ADHD is most likely to decrease as the patient gets older?

Hyperactivity

What is the 1st line treatment option for ADHD?

Pharmacotherapy → CNS stimulants

What is the gold standard treatment option for ADHD?

Combo of medication + behavioral therapy

What ADHD medications are stimulants?

Methylphenidates (ritalin, concerta, focalin), amphetamines (adderall, vyvanse)

What ADHD medications are non-stimulants?

Atomoxetine (Strattera), antidepressants (Wellbutrin), a2 adrenergic agonists (Clonidine, Guanfacine)

What are CIs to CNS stimulants?

Cardiac risk & abnormalities

What stimulants can be used in the treatment of ADHD in children 6 and older?

Ritalin, Concerta, Focalin, Adderall XR, Vyvanse

What stimulants can be used in the treatment of ADHD in children 3 and older?

Adderall

What ages can the non-stimulant medications be used to treat ADHD?

≥ 6 y/o

*6-17 y/o for a-adrenergic agonists

What is the MOA of methylphenidate?

Block re-uptake of DA

What is the MOA of amphetamines?

Block re-uptake & stimulate release of DA

What is the MOA of atomoxetine?

Block re-uptake of DA (in the prefrontal cortex) & NE (throughout the brain)

What is the MOA of Wellbutrin?

Block re-uptake of DA

What ADHD medication is effective in reducing behavioral symptoms (frustration, high activity, agitation, aggression) & may take up to 2 weeks for initial response?

*monotherapy or adjunct to stimulants

A2-adrenergic agonists

What medication can be used to treat ADHD if comorbid anxiety or substance abuse and has modest efficacy in decreasing hyperactivity & aggressive behavior?

Wellbutrin

What SEs are seen with stimulants?

*typically mild, transient & respond to changes in dose/ timing/ med change

Anorexia, weight loss, stomach pain, poor growth, insomnia, tachycardia, jitteriness, tics, HA, dizzy, priapism, irritability & anxiety, abuse potential

What SEs are seen with non-stimulants?

Weight loss, GI sx, sedation, dec libido, HA, dizzy, low BP, rash, angioedema

What SEs are seen with atomoxetine (Strattera)?

Hepatotoxicity, suicidal behavior in pts < 25 y/o

What medications should be used for patients with ADHD & Tourette’s?

Guanfacine or clonidine

How is ADHD medication monitored?

1 mo after initiation: eval mood, adherence, vitals

Monthly visits until optimal dose, FU q 3 mos once stable, consider medication holidays if adverse effects

What are the non-pharm treatment options for ADHD?

Behavioral therapy → positive reinforcement, response cost

Play therapy & social skills training → develop relationships, help w/ patience, sharing, & asking for help

Educational techniques → daily schedule, limit distractions, test accommodations, charts & checklists, calm discipline, sit near teacher

What is the preferred initial treatment for ADHD in preschool children and adjunct therapy in adolescents?

Behavioral therapy

What is the next step if medication is not working in the treatment of ADHD?

Consider comorbidities or different diagnosis

What condition is a neurodevelopmental disorder characterized by impairments in reciprocal social communication/ interaction & behavior (restricted, repetitive patterns, interests, activities)?

ASD

What population & age of onset is autism spectrum disorder (ASD) MC?

M > F, 0 - 12 y/o

What is the etiology of ASD?

Genetics, neurobiological factors, environmental & perinatal factors → advanced parental age, medications during pregnancy

The following criteria is for what condition?

• Social: deficits in all 3

  • social & emotional reciprocity, nonverbal communicative behaviors, developing/ maintaining/ understanding relationships

• Restricted & repetitive behavior: ≥ 2

  • repetitive speech, movements, or use of objects

  • insistence on sameness, inflexible adherence ot routines, ritualized patterns or verbal/ nonverbal behavior

  • high restricted, fixated interests abnormal in intensity or focus

  • hyper/hypo reactivity to sensory input or unusual interests in sensory environment

• Must be present in early childhood, impair everyday function, & not caused by other condition

ASD

What 3 areas does every child with ASD have some problem with, to a degree?

Speech & language, social, movement

What severity of autism?

• needs support

• social & communication skills and repetitive behaviors only noticeable w/o support

Level 1 (high functioning)

What severity of autism?

• needs substantial support

• social & communication skills and repetitive behaviors obvious to casual observer, even with support in place

Level 2

What severity of autism?

• needs very substantial support

• social & communication skills and repetitive behaviors severely impair daily life

Level 3 (severe)

What are signs of ASD at 6 mos old?

No smiles or warm / joyful expressions

What are signs of ASD at 9 mos?

No back & forth sharing of sounds, smiles or other facial expressions

What are signs of ASD at 12 mos?

Lack of response to name, non babbling, baby talk, or back & forth gestures (pointing, showing, reaching, waving)

What are signs of ASD at 16 mos?

No spoken words

What are signs of ASD at 24 mos?

No meaningful 2 word phrases that don’t involve repeating or imitating

What social & sensory symptoms may be seen in ASD?

Disinterested/ unaware of other people or environment, inability to relate with others, trouble understanding or talking about feelings, difficulty with routine changes, doesn’t play pretend, engage in groups, imitate or use toys creatively

What sensory symptoms may be seen with ASD?

Over or under sensitive to touch & sound, refusal to eat certain foods, preoccupation with edges, spinning objects, shiny surfaces, lights or odors

What movement & behavioral symptoms may be seen with ASD?

Handflapping (stimming), rocking back & forth, spinning in a circle, finger licking, head banging, tics, staring at lights, turning light switches on & off, repeating single words or specific noises

What speech & language symptoms may be seen in ASD?

Delay or lack of spoken language or language is developed but not used for communication (echolalia, repeating words), difficulty initiating or sustaining conversation, noticeable deviations in stress/ pitch/ intonation of speech, difficulty gaining listeners perspective, realizing meaningful implications or understanding humor or sarcasm

What other clinical features may be seen on PE in ASD?

Macrocephaly, ear malformation (fragile X syndrome), clumsiness, toe walking, hypotonia, ambidextrous, abnormal dermatoglyphics (fingerprints)

What are the treatment options for ASD?

*early intervention is key

Behavioral/ educational interventions: ABA, PT/OT, TEACCH, social skills

Meds targeted to sx (stimulant, antipsychotics, SSRIs)

CAM: supplements / omega 3 (in AI), gluten or casein free diet, hyperbaric O2, chelation for tx of heavy metal toxicity (esp mercury)

What is the presence of both multiple motor & ≥1 vocal tics for more than 1 year?

Tourrete syndrome

What is the MC onset & population for Tourette syndrome?

M > F, ~6-11 y/o (50% resolve by 18)

What are examples of vocal tics?

Barking, coughing, grunting, shouting, throat clearing, echolalia, palilalia, vulgar words

What are examples of common motor tics?

Blinking, mouth movements, head jerking, facial grimacing, shoulder shrugging, vulgar gestures

The following criteria is for what condition?

• multiple motor & vocal tics

• tics must occur many times a day, almost every day or intermittently for > 1 yr

• onset before 18 y/o

• involuntary movement not d/t substance of medical condition (Huntington, post viral encephalitis)

Tourette syndrome

What are the behavioral therapy options for Tourette syndrome?

Habit reversal training- tic awareness or competing response training

Deep brain stimulation- for refractory

What are pharmacological treatment options for Tourette syndrome?

DA receptor blockers: tetrabenazine, fluphenazine, risperidone

A-adrenergic agonistis: guanfacine (preferred), clonidine (sedation)

Topiramate: short term

Botox: effective for simple motor sx

What DA receptor blocker is the drug of choice for troublesome tics that does NOT cause tardive dyskinesia?

Tetrabenazine