Genetic disorders Flashcards
What is Down Syndrome?
- Genetic disorder where a person has a full or partial extra copy of chromosome 21
GI disorders associated with Down Syndrome
- Hirschprung disease - nerve cells in part of colon do not form correctly
- Duodenal atresia - part of duodenum fails to form
Physical characteristics of Down Syndrome
- Flattened face
- Almond shaped
- Brushfield spots - tiny white or greyish-brown spots on the iris
- Protruding tongue
- Small dysplastic ears
- Short neck
- Small hands and feet
- Single palmar crease
- Hypotonia and joint hypermobility
- Short stature
Medical issues associated with Down Syndrome
- Thyroid disease
- Anemia
- Hirschsprung disease
- Celiac disease
- Congenital heart defects of atrial or ventricular walls
- Obstructive sleep apnea
Associated disorders with Down Syndrome
- ASD
- Leukemia
- Parkinson’s Disease
- Alzheimer’s/dementia
Intellectual impairments with Down Syndrome
- Language deficits
- Average IQ is 50 (range 30-70)
- Majority of people with Down Syndrome are capable of self-care and vocational tasks
Sensory impairments with Down Syndrome
- Visual deficits (myopia, astigmatism, esotropia, cataracts, nystagmus)
- Hearing impairments
- Neural - missing cochlear hair cells
MSK issues with Down Syndrome
- AA joint instability
- Loss of strength
- Hip dislocation
- Pes planus
- Scoliosis
- Torticollis
Neurological signs with Down Syndrome
- Babinski and clonus
- Sensory changes
- Loss of bowel and bladder control
Motor control/development characteristics with Down Syndrome
- Cerebellar alterations - motor learning difficulties
- Motor development - slow acquisition of motor milestones
- Hypotonia - decreased rotation, hanging on ligaments
- W sitting, bunny hopping, sit and scoot
Outcom measure for Down Syndrome?
- Gross motor function measure (GMFM)
- Norm-referenced for children with Down Syndrome
Interventions for hypotonia for Down Syndrome
- Hip helpers
- Orthoses
- Treadmill training
- Vibration platform
- Strengthening
- Aerobic conditioning
What is Cri-du-Chat?
- Deletion of part of segment of chromosome 5
Facial characteristics of Cri-du-Chat
- Low set ears, wide set eyes
- Flat, wide nasal bridge
- Short distance from nose to upper lip
- Downward slanting eyes with vertical eye folds
- Strabismus - crossed eyes
- Small jaw
- Potential for cleft palate/lip
- Early whitening of the hair
MSK issues with Cri-du-Chat
- Clubfoot
- Hip dislocation
- Joint hypermobility
- Scoliosis
Cri-du-Chat behavioral/functional characteristics
- Delayed growth and development
- Hypotonia
- Intellectual disability and short attention span
- Speech/language delays
- Self-injurious behavior
- Hypotonia progresses to hypertonia
- Rounded face progresses to thin face
What is Prader Willi syndrome?
- Partial delection of long arm of chrosome 15 from father
Characterics of Prader-Willi Syndrome Characteristics
- Obesity
- Short stature
- Insatiable appetite
- Hyperphagia
- Delayed development ( 12 months to sitting, 24 months to walking)
- Cognitive impairment - avg IQ 70
- Tempure tanttrum
- Self injurious behavior
- OCD
- Labilty
What is Angelman syndrome?
- Partial deletion of part of chromosome 15 from mother
Characteristics of Angelman syndrome
- Intellectual disability
- Autistic behaviors
- Hyperactivity
- Developmentally plateau ~24-30 month level
- Axtaxia
- Seizures
- Severe speech difficulty
- Excessive drooling
- Progressive microcephaly
- Happy affect
- Hypopigmentation
- Sleep disturbances
- Fascination with water, music, shiny objects
Motor characteristics of Angelman syndrome
- Truncal hypotonia
- Distal extremity hypertonia and hyperreflexia
- Movement disturbances
- Impaired balance
- Delayed acquisition of motor skills (walking at 2-6 years)
- Jerkiness of movement
- Ataxis gait
- Tremors
What is lissencephaly?
- Gene-linked disorder of neural migration
- Lack of cortical sulci and small head size
- Brain fails to grow after birth
Medical issues with lissencephaly
- Seizures
- Hydrocephalus
- Life expectancy of 10 yrs or less
Motor impairments of lissencephaly
- Only develop to about the 5 month level (rolling and sitting)
- Hypotonia
- Difficulties with balance