Developmental DisabilitiesDevelopmental Red Flags

Developmental DisabilitiesDevelopmental Red Flags

Anne M. Leavitt, MD

Developmental Behavioral Pediatrics

October 30, 2017

DEVELOPMENTAL DISABILITIES/DELAYS: definitions

• Developmental• Early childhood, developmental period

• Not injury in adulthood (TBI, stroke)

• Immaturity• Assume will grow out of it

• Delay• May or may not persist

• Disability• Impaired function

Streams of Development

• Gross motor

• Fine motor

• Language

– Expressive

– Receptive

• Problem solving (cognitive)

• Social

DEFINITIONS

• Surveillance– ongoing, informal

– Listen to parents and take concerns seriously

• Screening– ASQ, MCHAT-R/F

• Evaluation– Standardized tests

• Delay vs. unusual sequence

CSHCN: those who have or at risk for a chronic physical, developmental, behavioral, or emotional condition

and who also require health and related services of a type or amount beyond that required by children generally

http://www.neserve.org/neserve/pdf/NES%20Publications/Shared%20Re

sponsibilities%20Toolkit/Screener_%20FACCT.pdf

How common?

childhealthdata.org 2012

Children with special health care needs

are present in 20 percent of U.S.

households with children. The

prevalence of special health care needs

in children increases with their age.

Among preschool children (ages 0

through 5), just under 8 percent have

special health care needs.

National Survey of Children with Special Health Care Needs

MCHB / HRSA

CSHCN by age and sex

CSHCN report one of the following:

Health Issue % Health Issue %

Learning Disability 27 Speech problems 16

ADHD 32 Tourette Syndrome 0.2

Depression 8.5 Asthma 30

Anxiety 13 Diabetes 1.4

Behavioral problems 14 Epilepsy 3

Developmental Delay 15 Hearing impairment 4

Intellectual Disability 5 Vision Impairment 3

Autism Spectrum Disorder 8 Bone, joint muscle issues 8

Cerebral Palsy 1 Brain Injury 1

childhealthdata .org 2012

First things first

• Our first, and most important job, is to understand a child’s strengths, challenges, and function in the real world.

• Only after that is done should we move on to consider appropriate diagnoses.

• The best label for Johnny is Johnny.

• Every child and family is unique, and should be appreciated.

Developmental Quotient

DQ <70 Delay

DQ 70-85 Monitor

DQ >85 Typical range

*Perform for each stream of development

DQ = Developmental Age/ Chronologic age X 100

Patterns in Development

Motor Problem

Solving

Rec/Exp

languageSocial

ID V D D D

CP D V-T V-T D

Vision D D T D

Hearing

loss

T T D V-T

AUTISM T V-T D D

T = typical V= variable D = delayed

Ages of early diagnosis/recognition

0-12 mo. 1-2 yr. 2-3 yr. 3-4 yr.

ID,

mod/sev.

ID, mod ID, mild ID, mild

VI/HI HI HI

CP CP CP mild

Autism Autism /

Language

delay

Language

Delay

RED FLAG

Any time there is a history or exam

consistent with

LOSS of SKILLS (regression)

THINK……metabolic, genetics w/u, neuroimaging, seizures, hydrocephalus, toxin exposure, autism

RED FLAG

MOTOR DELAY: RED FLAG• Any boy not walking by 15 months

should get a CK to r/o Muscular Dystrophy

• Consider CP, SMA

• Consider undiagnosed orthopedic problems: hips, other joints

• The most common cause of delayed GM skills is global delay.

RED FLAG

• Early Handedness

Children with handedness before age 15 months may have an abnormally weak upper extremity on the other side.

Language Delay: Definitions

• Language- a system of verbal, written, or gestured symbols used to communicate information or feelings.– Components: phonology, morphology, syntax,

semantics, pragmatics

• Speech- The physical production of spoken language.– Components: articulation, phonology, voice quality,

pitch, loudness, resonance, fluency, rate, rhythm

Identify early!

• 5-10% of all children have developmental language disorder ( at age 3-4 years)

• 15% of two year olds do not have 50 single words and/or two word combinations.

• Delayed language may be a marker of other developmental disorders

• Language is the BEST predictor of later cognitive function

• Early intervention yields best outcomes

Typical Language Development

• Expressive: two phases

Social smile 5 wk

Coos 6-8 wk

Laughs 3-4 mo

Rasberry 4-5 mo

Squeals 5 mo

Babbles 6 mo

(HL: until 6-8 mo)

1st word 10-16 mo

Immature jargon 12 mo

4-6 words 15 mo

2 words 18-24 mo

Pronouns indiscrim 2 y

Tells stories 4 years,

100% intelligible

Typical Language Development

• Receptive

InfantAlerts to voice 1 mo

Regards speaker 3 mo

Listen then vocalizes 5 mo

Enjoys gesture games 9 mo

Understands “no” 9 mo

Orients to name 8-10 mo

Command,

with gesture 12mo

Toddler1 step command,

without gesture 14 mo

1 body part 15 mo

Fetches on command 16 mo

Points to picture 18 mo

6 body parts 20 mo

2 step command 24 mo

Disorders with language delay

• Developmental Language Disorder 5-10%

• ID 3%

• Hearing Loss/Deaf .5-1%

• Autism 2%

RED FLAG

• All children with language delay should be referred for hearing assessment.

• Infants who are deaf may have normal pre-linguistic expressive language until 6-9 months of age.

• 6-15% of kids who have permanent hearing loss missed identification at newborn screening.

• Children can have acquired hearing loss, so don’t just rely on NBS.

Language Delay: hearing loss

People with hearing loss can often HEAR something but cannot understand or comprehend what is being said

https://www.youtube.com/watch?v=TD5E88fFnxE&feature=pla

yer_detailpage

Language Delay: RED FLAG

PHYSICAL CAUSES:

• A bifid uvula is evidence of a

submucous cleft in the palate

and warrants evaluation if

associated with recurrent OM,

speech delay, or VPI.

• Consider 22q11.2 deletion

syndrome

• Motor speech deficits

Language Delay: RED FLAG

• Typical pattern is for RL>EL.

• Expressive language that significantly exceeds receptive language is unusual.

THINK :

1. AUTISM, with echolalia, scripted speech

2. Syndromes with “cocktail personalities”

3. Parent misinterpretation

4. Hearing loss

Joint Attention Skills*TYPICAL ASD

8-10 months Gaze monitoring No eye contact

10-12 months Following a point Does not respond to

request “oh look!”

12-14 months PIP

(protoimperative)

Develops advanced self

help skills: prefers to get

things themselves

14-16 months PDP

(protodeclarative)

*Consistently absent

14-18 months Show and tell Brings object to parent to

obtain help or indicate

request

*Joint attention deficits appear to be specific to ASD and reliably differentiate children with ASD from other developmental disabilities.

Protodeclarative PointingTo show!

Social Delay: RED FLAGS

• Lack of response to name

• Lack of eye gaze and monitoring

• Lack of gestures for communication (waving, pointing, head nodding)

• Lack of requesting items or attention

• Lack of bringing and showing to share interest

https://www.m-chat.org/mchat.php

Free, online MCHAT-R screener with scoring

Problem solving

• Problem solving milestones are evidence of cognitive abilities, or intelligence, without the use of language.

…Patterns…..• Typical PS = RL > EL ..COMMON, often resolves

• Typical PS > RL > EL …less common, often LD

• Low PS, Low RL, Low EL = ID

Typical development

• Blocks

– Regards 3 mo

– Attains 5-6 mo

– Takes 2nd 6-8 mo

– Releases into cup 12 mo

– Takes a 3rd 12-14 mo

– Builds a tower of 2 13-15 months

– Builds a tower of 4 18 months

– Builds a tower of 6 24 months

– Train 26-30 months

“Global developmental delay”

• A significant delay in 2 or more streams of

development

• NOT a diagnosis

• NOT usually regression or loss of skills

• Can be used for services in health care setting (ICD 9

315.9, ICD-10 F88), Early Intervention and for Public

Schools. Can’t be used for services after age 6-9 years.

Intellectual Disability( outdated term: Mental retardation)

• 2-3% of population

• Male > Female

• 85% of ID is MILD category

Most common genetic cause:

Most common inherited cause:

Most common preventable cause:

Down Syndrome

Fragile X Syndrome

Fetal alcohol

exposure

Levels of ID

• Mild (Intermittent Support) IQ~ 55-69

– Vast majority 85%

– More common in boys

• Moderate (Limited Support) IQ ~ 40-54

• Severe (Extensive Support) IQ~ 25-39

– Rare .5%

– Ratio of boys to girls is equal

– Think about Rett Syndrome in girls

• Profound (Pervasive Support) IQ < 24

Intellectual Disability: Known causes

Prenatal (60-75%)– CNS malformation

– Chromosomal abnormality

– Syndrome

– Genetic

– Toxins

– Infection

– Neurocutaneous syndrome

– Malnutrition

Perinatal (10%)– Hypoxia

– Neonatal seizures

Postnatal (1-10%)– CNS infection

– Stroke/Hemorrhage

– Trauma/Abuse

– Hypoxia

– Degenerative

– Epileptic encephalopathy

– Metabolic

– Complications of

prematurity

ID: The Search

The more severe the ID,

the more likely to find etiology.

• Chromosomal microarray (40% + in SEVERE): identifies copy number variants

• DNA for Fragile X (2-6% +)

• Whole exome sequencing

• ± Neuro-imaging (MRI study of choice)

– IQ <50, micro/macrocephaly, abnormal neuro exam, seizures, loss of milestones

• ± Metabolic Studies (if regression, family history)

Exam: Head Circumference

Rule of 3’s and 9’s

– Birth: 35 cm

– 3 mo: 40 cm

– 9 mo: 45 cm

– 3 yrs: 50 cm

– 9 yrs: 55 cm

Predictive value of a good exam: Red Flag

The presence of three or more minor anomalies is highly predictive of a major malformation, and more likely to find abnormality with genetic testing.

Examples: frontal bossing, absent hair whorl, anteverted nostrils, epicanthal folds, preauricular tags, pits, abnormal pinna of ears, bifiduvula, extra nipples, single umbilical artery, umbilical hernia, sacral dimple, single palmar creases, syndactyly, overlapping toes….

ETIOLOGY (CAUSE)

• Genetic: De novo (Prader-Willi Syndrome)

• familial (Fragile X Syndrome)

• Prenatal: Exposure to alcohol, medications, other substances

• Uterine factors: IUGR

• Perinatal: HIE

• Trauma: TBI

• Environmental/Social factors

RISK FACTORS

• We often cannot determine exact cause

• However, we often can identify risk factors

• Cause may be multifactorial and intertwined– Prenatal alcohol exposure, poor maternal

nutrition, chaotic social situation, family history of significant learning problems, etc.

• Be mindful of the fact that parents frequently blame themselves for their children’s problems.

Nature vs nurture

• Early nurturing experiences activate synapses, strengthen existing pathways, create new pathways.

• Lack of experience increases apoptosis (cell death) and synaptic pruning

• Adverse Childhood Experiences (ACEs)

Anticipating behavioral problems in medical/assessment settings

• Due to language delays

• Due to social delays/deficits

• Due to sensory issues– Loud, new, unexpected sounds

• Doesn’t know what to expect– New place, new people

• All this leads to ANXIETY

• BEHAVIOR IS COMMUNICATION

Preparation for any change in routine or new experience helps

• Discuss visit/change at appropriate time (not too early or late)

• Pre-visit tour and/or pictures• Use social stories/ story books• Visual schedule and supports • Bring comforters and distracters• Does child have light and noise sensitivities?

– Sunglasses for bright lights– Earphones with +/- music for sound

So, you’ve identified a child with developmental concerns. Now what?

• Any age: NDV Clinic/CDC/CAC for diagnostic evaluation

• Under 3 years old– Birth-to-Three programs

– County Family Resources Coordinator (FRC)

– Private therapies

• 3 years +– Child Find for evaluation by school district

– Private therapies

Take home messages

• Listen to parents and take their concerns seriously.

• Don’t be afraid to talk about your observations and concerns with parents. If you’ve noticed something, the parents probably have, too.

• IF UNSURE, REFER

DON’T DELAY SERVICES

• NEVER delay referral to a Birth-to-Three program or Child Find while you wait for a diagnostic evaluation!!!!!!!!

• A child does NOT need a confirmed diagnosis (ASD, for example) to qualify for services, just confirmed delays.

• Therapy and educational interventions should be tailored to a child’s challenges and needs, NOT necessarily to their diagnosis.

“Find the ability in disability”