Approach to the Child with Developmental Delay Arwa Nasir Department of Pediatrics University of Nebraska Medical Center DISCLOSURE DECLARATION Approach to the Child with Developmental Delay Arwa Nasir Arwa Nasir has No Conflicts of Interest to disclose. 1
Normal Development Newborn Adult 2
Streams of Development Gross Motor Fine Motor Language Emotional Higher cognitive, Problem solving Developmental Surveillance Developmental Surveillance: flexible, longitudinal, continuous, and cumulative process, whereby knowledgeable professionals identify children who may have developmental problems Screening: formal process that relies on validated instruments administered at specified time points to identify individuals with a high risk of pathology 3
Normal Development: general principles Highly predictable sequence Cephalocaudal Proximal to distal 4
Objectives Define Development Outline the principles of Normal Development Evaluate the Factors that influence Development Recall some of the major developmental milestones Develop an Approach for the assessment of the child with suspected developmental delay Normal Development: Gross Motor 2 weeks Turns head to side, flexed tone, tight fists, moves all extremities, fixes on face 2 months Lifts head off table when prone, head lag, relaxed tone 4 months Lifts chest of table when prone, rolls from front to back 6 months Leads with head when pulled from supine position, tripod sit, rolls from back to front, moves toys from hand to hand 9 months Sits without support, army crawl, 12 months Cruises/walks 5
Normal Development: Language Age Language milestone 1 month Social smile 2 months Coos 4 months laughs 6 months babble 9 months Mama, Dada, Bye bye 1 year Emerging words (average 10) 18 months 25 words 2 years 2 word sentences, 200 words 3 years 3 word sentences, ¾ speech intelligible 4 years Tells stories, all speech intelligible Developmental red flags Not achieving milestones Out of sequence milestones Generalized hypotonia Associated dysmorphic features Associated neurologic symptoms: seizures Family history of conditions associated with developmental delay 6
Developmental Delay: Most Common Causes Cerebral Palsy Mental Retardation or Intellectual Disability Meningomyelocele Autism Spectrum Disorders Gross Motor Delay: Red flags Not raising chest by 4 months Poor head control by 6 months Persistence of fisted hands by 6 months Rolling over before 4 months Hand dominance before 18 months Not walking by 18 months 7
Gross Motor Delay: Approach 1. History: risk factors: prematurity, Birth asphyxia, congenital infections, inherited familial conditions 2. Physical Examination: Dysmorphic features, cutaneous manifestations, head circumference, growth velocity, Muscle Tone 3. Work up: if muscle tone in increased, this suggests an upper motor neuron pathology and CNS imaging may be indicated 4. If tone is normal or decreased, consider checking CK and thyroid function Cerebral Palsy: Causes CNS anomalies Genetic Disorders Chromosomal anomalies Neuromuscular junction: Muscular dystrophies: Duchene and Becker Metabolic: Inborn Errors of Metabolism Endocrine: Hypothyroidism 8
Fine motor delay: approach Isolated fine motor delay is not common, it is usually associated with delays in other streams of development Isolated fine motor delay is associated with sensory impairment, such as blindness or deafness Language delay: red flags No words by 18 months Unintelligible speech by 3-4 years Does not acquire new words 9
Language delay: Language is the most sensitive milestone to cognitive function The most common causes of speech delay are mental retardation and autism spectrum disorders Hearing impairment, whether congenital or acquired can cause speech delay Mental retardation Cognitive Impairment Definition: IQ score < 70 and poor adaptive functioning onset before 18 years 10
Mental Retardation Cognitive Impairment Cognitive delay tends be stable over time Cognition is difficult to assess in the first few years, so we depend on motor and language skills and assessment of risk factors and frequently associated factors The more severe cognitive delays present earlier Mental retardation Cognitive Impairment Etiology: Prenatal: Genetic disorders, chromosomal trisomy, inborn errors or metabolism, lysosomal disorders, leukodystrophis Intrauterine: infections, toxic exposures, drugs, alcohol, radiation Postnatal: hypoxemia, hypoglycemia, CNS infections 11
Mental retardation Cognitive Impairment Presentations Newborn Period: Dysmorphic features, seizures, metabolic instability, birth asphyxia, abnormal tone 3-6 months: abnormal tone, states of neural dysregulation 6-12 months: Motor delay and abnormal tone 12-24 months: Motor delay, language delay >24 months: language delay, behavioral disturbance, poor problem solving Mental Retardation Cognitive Impairment Diagnostic considerations: Evaluation of Hearing and Speech, as well as hemoglobin and lead levels should be done in all children suspected of MR Dysmorphic features should prompt a detailed family history and possible genetic evaluation Associated motor delay or failure to thrive should prompt a metabolic work up Associated muscle weakness and hypotonia should prompt work up for muscular dystrophy 12
Mental Retardation Cognitive Delay Indications for imaging MRI: Asymmetric findings on neurologic exam Abnormal neurologic exam such as weakness or hypotonia, seizures, deafness or blindness Evolving impairments Autism Spectrum Disorder Impairment of social emotional functioning Prevalence of 1:150 Third most common DD after MR and CP Multimodal etiology (Poly genetic/multiple gene on the x chromosome) 13
Autism and Pervasive Developmental Delay Qualitative impairments of social functioning Qualitative impairment in verbal and non verbal communication Restrictive, repetitive pattern of interests and behaviors Autism Spectrum Disorder Diagnostic considerations: Screening recommended at 18 and 24 months Common presenting features include sensory dysregulation, language delay, lack of social interactive skills (eye contact, reciprocity and sharing, joy in interacting with others) and perseverating and stereotypic behaviors 14
Autism Spectrum Disorders Common associated comorbidities: Obsessive compulsive tendencies Attention Deficit Disorder MR (70%) Sensory oversensitivity Aggression Sleep problems Picky eating Autism Spectrum Disorders Management: Behavioral therapy Educational accommodation Parent support Medications (to treat secondary symptoms) 15