Developmental Disabilities

Transcription

1 Developmental Disabilities Developmental Red Flags Anne M. Leavitt, MD Developmental Behavioral Pediatrics October 30, 2017

2 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

3 Streams of Development Gross motor Fine motor Language Expressive Receptive Problem solving (cognitive) Social

4 DEFINITIONS Surveillance ongoing, informal Listen to parents and take concerns seriously Screening ASQ, MCHAT-R/F Evaluation Standardized tests Delay vs. unusual sequence

5 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 tp://

6 How common? 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 childhealthdata.org 2012

7 CSHCN by age and sex

8 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

9 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.

10 Developmental Quotient DQ = Developmental Age/ Chronologic age X 100 DQ <70 DQ DQ >85 Delay Monitor Typical range *Perform for each stream of development

11 Patterns in Development Motor Problem Solving Rec/Exp language Social 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

12 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

13 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

14 RED FLAG

15 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.

16 RED FLAG Early Handedness Children with handedness before age 15 months may have an abnormally weak upper extremity on the other side.

17 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

18 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

19 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) 1 st word mo Immature jargon 12 mo 4-6 words 15 mo 2 words mo Pronouns indiscrim 2 y Tells stories 4 years, 100% intelligible

20 Typical Language Development Receptive Infant Alerts 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 Toddler 1 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

21 Disorders with language delay Developmental Language Disorder 5-10% ID 3% Hearing Loss/Deaf.5-1% Autism 2%

22 RED FLAG All children with language delay should be referred for hearing assessment. Infants who are deaf may have normal prelinguistic 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.

23 Language Delay: hearing loss yer_detailpage People with hearing loss can often HEAR something but cannot understand or comprehend what is being said

24 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

25 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

26 Joint Attention Skills* TYPICAL ASD 8-10 months Gaze monitoring No eye contact months Following a point Does not respond to request oh look! months PIP (protoimperative) months PDP (protodeclarative) Develops advanced self help skills: prefers to get things themselves *Consistently absent 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.

27 Protodeclarative Pointing To show!

28 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 Free, online MCHAT-R screener with scoring

29 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

30 Blocks Typical development Regards 3 mo Attains 5-6 mo Takes 2 nd 6-8 mo Releases into cup 12 mo Takes a 3 rd mo Builds a tower of months Builds a tower of 4 18 months Builds a tower of 6 24 months Train months

31 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 , ICD-10 F88), Early Intervention and for Public Schools. Can t be used for services after age 6-9 years.

32 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: Down Syndrome Fragile X Syndrome Most common preventable cause: Fetal alcohol exposure

33 Levels of ID Mild (Intermittent Support) IQ~ Vast majority 85% More common in boys Moderate (Limited Support) IQ ~ Severe (Extensive Support) IQ~ Rare.5% Ratio of boys to girls is equal Think about Rett Syndrome in girls Profound (Pervasive Support) IQ < 24

34 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

35 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)

36 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

37 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, bifid uvula, extra nipples, single umbilical artery, umbilical hernia, sacral dimple, single palmar creases, syndactyly, overlapping toes.

38 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

39 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.

40 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)

41 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

42 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

43 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

44 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

45 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.

46 Find the ability in disability