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 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