Down Syndrome: Recent Advances in Medical · PDF fileDual Diagnosis Down Syndrome: Recent Advances in Medical Treatment Robin Blitz, MD Developmental Pediatrician May 12, 2012...

Dual Diagnosis Down Syndrome:

Recent Advances in Medical Treatment

Robin Blitz, MD

Developmental Pediatrician

May 12, 2012

©2012RobinKBlitz

Down Syndrome and Developmental

Pediatrics

• Developmental delays

• Intellectual disability

• Musculoskeletal

• Comorbid Medical Problems

• Comorbid Developmental-Behavioral Diagnoses

©2012RobinKBlitz

Developmental Delays

• Motor- Gross and Fine

• Self-help

• Speech / Language

• Cognitive

• Social-Emotional

©2012RobinKBlitz

Intellectual Disability

• Range of abilities and needs

• Interventions:

• AzEIP

• DDD

• School services

©2012RobinKBlitz

Comorbid Medical Conditions

• Musculoskeletal Conditions

• ENT - ear infections, hearing loss

• Vision Problems - cataracts, myopia, strabismus

• GI Problems - Hirschsprung, constipation, Celiac

disease, feeding disorder

• Hematology / Oncology

• Cardiac Conditions

• Neurology - epilepsy

• Endocrine Disorders - hypothyroidism, diabetes

©2012RobinKBlitz

Musculoskeletal Conditions

• Hypotonia, ligamentous laxity, joint hypermobility

• Atlanto-occipital and atlantoaxial instability, bony

abnormalities of cervical spine

• Scoliosis

• Hip instability, Slipped capital femoral epiphysis

• Patellar instability

• Foot deformities

©2012RobinKBlitz

ENT - Hearing Loss

• Previous studies - 38-78% incidence

• With aggressive treatment of chronic ear infections,

significant improvement in hearing

• Normal Hearing - Important for language

development!

©2012RobinKBlitz

Comorbid Developmental-Behavioral

Disorders

• Sleep disorders

• ADHD

• Anxiety / OCD

• Depression

• Autism

©2012RobinKBlitz

DS and Sleep Disorders

• Obstructive Sleep Apnea

• Insomnia

• Daytime Sleepiness

©2012RobinKBlitz

DS and ADHD

• Frequently overlooked and

undertreated

• Assess for other medical

problems

• Assess for other psychiatric

comorbidities

©2012RobinKBlitz

DS and Anxiety, OCD, Obsessional

Slowness

• Increases with age

• May be related to lower levels of serotonin

• Obsessional slowness - daily living skills and eating

©2012RobinKBlitz

DS and Depression

• Intellectual disability is associated with higher risk of

Depression, loneliness and social isolation

• No significant increase specifically for people with DS

• Under-reported and under-recognized and under-treated

©2012RobinKBlitz

DS and Autism

• Under-Diagnosis

• 7-10%, up to 15% prevalence for ASD

• Later age of diagnosis >> later onset of intervention

• Later age of regression (up to 50% of children with

DS and ASD)

• Stereotypic Movement Disorder, without social

impairment

©2012RobinKBlitz

DSM-IV Criteria

Autism

• Impairment in Social Skills

• Impairment in Communication

• Restrictive, Repetitive, and Stereotypical patterns of

interest, behavior, activities

©2012RobinKBlitz

DS, ASD, and Language

• Atypical language development

• Echolalia

• Perseveration

• Delays more than other areas

• Impaired non-verbal communication

• lack of gestures or imitative behavior

• poor eye contact

©2012RobinKBlitz

DS, ASD, and Social Skills

• Increased social withdrawal and relating problems

• Impaired peer relationships

• Lack of empathy / social reciprocity

• Lack of shared attention

©2012RobinKBlitz

DS, ASD, and Repetitive Behaviors

• Increased stereotypes

• Increased odd / bizarre / complex stereotypical

and anxious behaviors

• Insistence on repeating the same activity over and

over

• Tendency to touch or smell people and objects

• Strong resistance to change in environment

©2012RobinKBlitz

DS and Dual Diagnosis

Earlier identification

leads to more

appropriate

interventions, increased

family support and

better prognosis

©2012RobinKBlitz