What are the prenatal causes of neurodevelopment problems?
Genetic/metabolic
Congenital malformations
Drug exposures
TORCH infections
What are the perinatal causes of neurodevelopment problems?
Prematurity HIE Brachial plexus injury Neonatal sepsis Kernicterus
What are the postnatal causes of neurodevelopment problems?
Abusive head trauma
Child neglect
Maternal depression
Autism and cerebral palsy are neurodevelopment problems that…….?
Are caused by multiple pathways and are multifactorial in nature.
Any significant health or social crisis early in life—even if not directly related to the nervous system does what?
Increases risk of developmental delay, disability, and behavioral problems if it affects oxygen, nutrition, or causes prolonged stress. Example - 40-50% of children who survive congenital cyanotic heart lesions have ADHD.
What are some genetic and metabolic disorders?
Trisomy 21 Fragile X syndrome Rett syndrome Phenylketonuria (PKU) Congenital hypothyroidism Duchenne muscular dystrophy
What is the most common chromosomal abnormality?
Trisomy 21 - risk increases with maternal age.
What are some common characteristics of those who have Trisomy 21?
What types of cardiac diseases are associated with Trisomy 21?
Congenital heart disease (usually VSD and AV canal)
Mitral valve prolapse and aortic regurgitation
What are the neurological complications associated with Trisomy 21?
Cognitive impairment (mild to severe) Low muscle tone Motor and language delay Autistic behavior Alzheimer disease
What is the most common form of inherited intellectual disability in boys?
Fragile X syndrome. Is an X-linked dominant condition.
What are some characteristics of Fragile X syndrome?
Fragile x syndrome is caused by a mutation in what?
The FMR1 gene - is a CGG triplet repeat.
Describe Rett syndrome.
What is the genetic basis of Rett syndrome?
What is PKU?
What are the symptoms of PKU if untreated?
Intellectual disability Seizures Tremors or jerky movements Hyperactivity Stunted growth Atopic dermatitis Musty odor in breath, skin, or urine Lighter skin, hair, and eye color than their family members
What is congenital hypothyroidism?
Occurs when thyroid gland fails to develop properly (80-85% of cases) or function normally (genetic, or mom’s diet low in iodine). Symptoms appear at 3-4 weeks of life. Newborns are usually screened.
What causes congenital hypothyroidism?
How is congenital hypothyroidism treated?
Levothyroxine therapy.
If untreated, congenital hypothyroidism causes what?
Intellectual disability Poor feeding “Failure to thrive” Coarse facial features, swollen tongue, persistent large fontanels Myxedema Wide, short hands Constipation Hearing loss Jaundice Fatigue Hypotonia Bradycardia
What is muscular dystrophy?
Group of genetic diseases in which a muscle protein is abnormal, susceptible to damage.
What are the types of muscular dystrophy?
9 major types: Duchenne Becker Emery-Dreifuss Limb-girdle Fascioscapulohumeral Oculopharyngeal Myotonic Congenital Distal
Describe some characteristics of Duchenne MD.