Syndromes and Disorder Flashcards
Prader-Willi Syndrome
A rare genetic disorder in which the paternal genes on chromosome 15 are deleted or unexpressed resulting in a number of physical, mental, and behavioral problems.
-as an infant pt. is very hard to feed; low tone and no interest to eat
Prader-Willi Syndrome: Prevalence
- 1 out of 10,000 to 15,000 live births are diagnosed with Prader-Willi
- Impacts more than 400,000 worldwide
- Boys and girls are impacted equally
Prader-Willi Syndrome: History
First described in 1956 at the University of Zurich
Pediatricians Andrea Prader and Heinrich Willi of Switzerland were first to describe
First case of PWS in the US was diagnosed in 1960
Prader-Willi Syndrome: Clinical Features in Infancy
- Hypotonia
- Distinct facial features: almond-shaped eyes
- Thin upper lip/downturned
- Head narrowing at temples
- FTT
- Lack of eye coordination
- Poor responsiveness
Prader-WIlli Syndrome: Clinical Features in Childhood
- Excessive food craving
- Weight gain (especially in trunk region)
- Hypogonadism (sex organs produce little hormones)
- Poor growth: small stature hands/feet
- Learning disabilities (mild to moderate)
- Delayed motor development
- Speech problems
- Behavior problems
- Sleep disorders (Apnea)
- sometimes food cravings can be so bad can cause child to not be able to focus and this can lead to learning disabilities
- typically hypotonic; do not move very much
Prader-Willi Syndrome: Specific Speech and Language Deficits
Speech sound errors Hypernasality Flat intonation Imprecise articulation Slow speaking rate Abnormal pitch
Prader-Willi Syndrome: Diagnosis
- MD may diagnose PWS based on clinical systems
- Genetic testing is used to confirm Dx by identifying chromosomal abnormalities that are characteristic of PWS
- Preferred method is a methylation analysis (detects>99% of cases)
- 2nd method is FISH
Prader-Willi Syndrome: Treatment and Care
- Nutrition and diet modification
- Growth hormone treatment
- Sex hormone treatment
- Therapies: Physical Therapy, Speech Therapy, Occupational Therapy, Developmental Therapy, Nutrition, Mental Health Therapy
- Environmental modification (lock up kitchen and food so child cant see the food; don’t use food pics and food for therapy)
- SLP will address speech and language issues and feeding concerns in infancy
Prader-Willi Syndrome: Prognosis
There is no cure for PWS
Most will require specialized care and supervision throughout their lives
Most adults will reside in residential care facility so eating habits can be monitored
Biggest health risks are complications from obesity
Therapy at home & school will be needed to address cognitive delays, communication, and behavioral delays
Danny Walker
DW malformation is characterized by a hypoplastic or missing cerebellar vermis, enlarged 4th ventricle, and cyst of the posterior fossa
Danny Walker: Prevalence/Prognosis
DWM is estimated to occur in >1 in 25,000 live births. It is the most common congenital malformation of the cerebellum
Mortality rates have decreased over time with medical advances
Current estimates suggest 27% of individuals with DWM die early
Overall prognosis is considered to be good and hopeful for those that survive
Best prognostic factor is absence of other congenital defects
Danny Walker: History
First described by Sutton in 1887 who was performing an autopsy on an infant
Dandy & Blackfan (1914), Dandy (1921) and Taggert and Walker (1942) contributed to classification of DWM by recognizing that there was a blockage of the 4th ventricle which often coincides with hydrocephalus
Dandy-Walker was appointed the name for the disorder in 1954
Danny Walker: Associated Problems
Hydrocephalus
Seizures
Polycystic Kidneys(cysts are numerous and fluid filed resulting in enlargement of kidneys)
Cardiac Anomalies
Limb and facial abnormalities
Symptoms of increased intracranial pressure (Lethargy, emesis, irritability)
Danny Walker: Associated Symptoms
Frequent:
- Other CNS abnormalities/disorders may co-occur
- Decreased intelligence
- Unsteady gait
- Nystagmus
- Lack of coordination
Occasional:
- Vision Problems
- Hearing Problems
- Cleft lip/palate
Danny Walker: Diagnosis
Diagnosis can be performed prenatally using ultrasonoghrapy after 18 weeks gestation
Postnatal diagnosis and differentiation from similar disorders is performed using MRI’s, CT scans, and angiographies
Danny Walker: Treatment/Management
Early treatment included removing the membranes of the posterior fossa (high mortality rates)
Surgical management of DWM currently includes shunting of the 4th ventricle to drain excess CSF buildup (caused by cyst formation)
Anticonvulsive therapy or medication is commonly needed (Phenobarbital most common anti-convulsive drug)
Variable symptoms are treated as needed by (including PT, OT, ST)
Fragile X
Fragile X Syndrome is an X-linked condition caused by a mutation on the FMR1 gene on the X chromosome. It is usually inherited from a mother who is a carrier of the condition.
Fragile X inheritance is complicated. The FMR1 mutation involves a region of repeating DNA bases on the gene. A FMR1 gene with 55-199 repeats is said to have a “premutation” and a gene with 200 or more repeats is said to have a “full mutation.” Premutations passed on in an egg may or may not develop into full mutations.
Fragile X: Prevalence
Fragile X is one of the most common genetic disorders
1 in 4000 males
1 in 6000 females
Fragile X: History
1943, Martin and Bell discovered that a particular form of intellectual disability was X linked
In 1969, Herbert Lubs developed the chromosomal test for Fragile X
In 1991 the FMR1 gene that causes Fragile X was identified
The name Fragile X comes from the broken or fragile appears of the X chromosome
Fragile X: Clinical Features
Delay in crawling, walking, or rotating Hand clapping or hand biting Hyperactive or impulsive behavior Anxiety and unstable mood Intellectual disability Speech and Language Delay Tendency to avoid eye contact Autistic Behavior Sensory Integration Problems Gastro-esophageal Reflux Recurrent Otitis Media Seizures affect about 25% of people with Fragile X Flat Feet Flexible Joints Low muscle tone Large body size High arched palate Scoliosis Large testicles Large forehead Large ears Prominent jaw Long face Soft skin
Fragile X: Diagnosis
DNA testing is performed to diagnose Fragile X
Fragile X: Treatment/Management
No specific treatment
Treatment as indicated for any accompanying health issues
OT for sensory integration
ST may be needed for problems with poor intelligibility, pragmatics, grammar, oral motor difficulties, and phonological problems
Fragile X: Prognosis
Prognosis is dependent on the degree of intellectual disability and the severity of the other a
ssociated conditions
Fragile X: Clinical Features
Delay in crawling, walking, or rotating Hand clapping or hand biting Hyperactive or impulsive behavior Anxiety and unstable mood Intellectual disability Speech and Language Delay Tendency to avoid eye contact
Fragile X
Fragile X Syndrome is an X-linked condition caused by a mutation on the FMR1 gene on the X chromosome. It is usually inherited from a mother who is a carrier of the condition.
Fragile X inheritance is complicated. The FMR1 mutation involves a region of repeating DNA bases on the gene. A FMR1 gene with 55-199 repeats is said to have a “premutation” and a gene with 200 or more repeats is said to have a “full mutation.” Premutations passed on in an egg may or may not develop into full mutations.
Fragile X: Prevalence
Fragile X is one of the most common genetic disorders
1 in 4000 males
1 in 6000 females
Fragile X: History
1943, Martin and Bell discovered that a particular form of intellectual disability was X linked
In 1969, Herbert Lubs developed the chromosomal test for Fragile X
In 1991 the FMR1 gene that causes Fragile X was identified
The name Fragile X comes from the broken or fragile appears of the X chromosome
Fragile X: Clinical Features
Delay in crawling, walking, or rotating Hand clapping or hand biting Hyperactive or impulsive behavior Anxiety and unstable mood Intellectual disability Speech and Language Delay Tendency to avoid eye contact
Fragile X: Diagnosis
DNA testing is performed to diagnose Fragile X
Fragile X: Treatment/Management
No specific treatment
Treatment as indicated for any accompanying health issues
OT for sensory integration
ST may be needed for problems with poor intelligibility, pragmatics, grammar, oral motor difficulties, and phonological problems
Fragile X: Prognosis
Prognosis is dependent on the degree of intellectual disability and the severity of the other associated conditions
Neonatal Abstinence Syndrome (NAS)
Prenatal:
A collection of symptoms found in newborns that have been exposed to addictive drugs in the womb. The drugs pass through the placenta to the infant. Once the infant is born, and is no longer receiving the drug(s), (s)he goes through withdrawal known as NAS
Postnatal:
A collection of symptoms found in the infants who are treated with drugs such as fentanyl or morphine for pain shortly after birth. They subsequently go through withdrawal when the drugs are withdrawn
NAS: Epidemiology
- 4.3% of pregnant women ages 15-44 reported using illicit drugs (2003)
- 10% of 4.1 million live births in the US have been exposed to opiates or opioids (heroin, methadone, pain pills)
- NAS is more commonly seen in urban areas
NAS: Clinical Features
Signs and symptoms typically begin between 103 days after birth, but may take up to 10 days to appear
Signs and symptoms depend on the drug(s) the mother used, how long she used the drug(s), the amount, and whether the baby was premature or term
Blotchy skin coloring (mottling) Diarrhea Excessive sucking Fever Hyperactive reflexes Increased muscle tone Irritability
NAS: Common Long-term Effects
Boys – increased risk for ADHD and behavioral disorders
Girls – increased risk for mood disorders
Both – increased risk for mental retardation and learning impairments
NAS: Diagnostic Criteria
Toxicology Screen:
- Meconium/hair
- Urinalysis/blood
NAS Scoring System – May help determine when to start, titrate, or terminate therapy
- Finnegan – Most common
- Lipsitz
- Modified scales per institution
NAS: Treatment
Management of NAS:
- Swaddling
- Rocking the infant
- Reducing noise and lights
- Breastfeeding unless contraindicated
- Team: ST, OT, PT, MD, Nursing, Mental Health Professionals, Social workers
Drug Management of NAS:
- Opioids – used for opioids and polydrug withdrawal
- Phenobarbital – used for polydrug withdrawal (most common)
- Methadone – used for opioid withdrawal
- Morphine – used for polydrug withdrawal, helps control seizures
Williams Syndrome
Williams syndrome is caused by the deletion of genetic material from chromosome 7. The loss of 1 of 2 copies of elastin protein in chromosome 7 is often associated with the cardiovascular and musculoskeletal issues seen in patients.
Williams Syndrome: Prevalence
- 1 in every 10,000 births
- Equal male to female ration
- Proportionate across race
- An estimated 20,000-30,000 individuals in the U.S. have WS
- Unlikely for other family members to have WS but if the person who has WS plans to have children, the child has a 50% chance of also having the diagnosis
Williams Syndrome: History
-First reported in 1961 by Dr. J.C.P. Williams who wrote about four patients who had similar disorders and facial features. A year later, Dr. A.J. Beuren reported 3 new patients with similar presenting characteristics. Therefore, the full name of WS is Williams-Beuren syndrome.
Similarities among patients with Drs. Williams and Beuren:
- Cardiovascular disease
- Learning disabilities and developmental delay
- Facial features
Williams Syndrome: Clinical Features
Small upturned nose Wide mouth Long philtrum Full lip Small chin Puffiness around the eyes Drooping cheeks Dental abnormalities (slightly small, widely spaced teeth) Starburst (lacy white pattern in children with green and blue eyes)
Williams Syndrome: Associated Problems (consistent)
Cardiovascular issues Supravalvular Aortic Stenosis (Narrowing of the blood vessels) Low birth weight Feeding problems Hyperacusis Developmental Delays Mild to moderate learning disabilities Overly friendly Lack of social inhibition Strength in expressive skills
Williams Syndrome: Associated Problems (frequent)
Hypercalcemia – elevated blood calcium level Kidney abnormalities Musculoskeletal issues such as low muscle tone and joint laxity: loosening of joint bones Mental disability – 75% of WS High blood pressure Irritability/colic-like Modified diet FTT Low muscle tone Distractibility Fine motor / spatial impairment
Williams Syndromes: Other Associated Issues
Williams syndrome is also sometimes called:
Elfin syndrome – inappropriate to use. Adult stature is slightly smaller than average and facial features become more apparent with age
Cocktail Party syndrome – inappropriate to use. Clients have excellent speech, appear to have strong social skills, fixated eye contact, and extreme friendliness. Many people with WS prefer talking to older individuals rather than peers.
Williams Syndrome: Treatment
- Modified diet, monitor calcium level
- Heart surgery
- PT (joint issues, delays, low muscle tone)
- ST (feeding as infants, social skills intervention, cognition, receptive language, expressive vocabulary +, ability to tell narratives +) Therapy most effective when accessing strengths
Williams Syndrome: Prognosis
- No cure
- Usually unable to live independently
Most people with WS will have a shorter lifespan due to complications of:
- Heart failure
- Kidney disease
- Death (from anesthesia)
Fetal Alcohol Syndrome (FAS)
- Caused by women who drink during their pregnancy
- Common misconceptions: The amount or alcohol, type of alcohol, or timeline of pregnancy make no difference, alcohol use can always be damaging
FAS: Prevalence
- 1 in 500 babies are born with FAS
- 1 in 100 babies have disabilities resulting from prenatal alcohol exposure (FAE)
FAS: Clinical Features
Symptoms range from mild to severe Abnormal facial features Smooth philtrum Small head size Shorter than average height Low body weight Poor coordination Hyperactive behavior Problems with the heart, kidneys, and bones Difficulty paying attention Poor memory Difficulty in school (math especially) Learning disabilities Speech and language delays Intellectual disability or low IQ Poor reasoning and judgment Sleep problems as baby Sucking problems as baby Vision and hearing issues
FAS: Diagnosis
Facial Features (must have all 3): -Abnormalities such as the smooth philtrum, thin upper lip, wide-spaced eyes
Growth Issues:
-At or below the 10th percentile in height and weight
Central Nervous System
Structural:
-Head size at or below the 10th percentile
-Significant changes seen on MRIs or CTs
Neurological
-Problems that cannot be linked to any other cause (poor coordination, poor muscle control, problems with sucking as a baby)
Functional (must have 3)
-Cognitive, executive functioning, or motor functioning delays, attention problems, hyperactivity, and problems with social skills
Prenatal Alcohol Exposure Confirmation is not required for a diagnosis but is helpful
FAS: Treatment
Medical care- all the care needed for a typical child plus other professionals depending on their specific impairments (pediatrician, PCP, audiologist, immunologist, neurologist, ophthalmologist, OT, PT, SLP)
Medication- stimulants, antidepressants, neuroleptics, anti-anxiety pills
Behavior and education therapy friendship training, specialized math tutoring, executive functioning training, parent-child interaction therapy, behavior management training
Alternative approaches- biofeedback, auditory training, relaxation therapy, yoga, exercise, acupuncture, energy healing, vitamins, animal assisted therapy
FAS: Prognosis
- No cure for FASDs
- Early intervention has been shown to improve the child’s development
Down Syndrome
Individuals with Down syndrome have 47 chromosomes instead of the usual 46
Down Syndrome: History
-Syndrome first described in mid-19th century.
-Identified in 1959.
-Named for the physician John Langdon who characterized the condition
Down Syndrome: Prevalence
-Most common genetic condition -1 in every 691 births -6,000 born each year in the U.S. -> 400,000 in the U.S.
-all races and SES
Fetal Alcohol Syndrome (FAS)
- Caused by women who drink during their pregnancy
- Common misconceptions: The amount or alcohol, type of alcohol, or timeline of pregnancy make no difference, alcohol use can always be damaging
Down Syndrome: Most Common Clinical Features
Flattened facial features Small head Short neck Protruding tongue Upward Slanting eyes Unusually shaped ears
FAS: Prevalence
- 1 in 500 babies are born with FAS
- 1 in 100 babies have disabilities resulting from prenatal alcohol exposure (FAE)
Down Syndrome: Often Present Clinical Feature
Poor muscle tone Broad, short hands Single crease in palm Relatively short fingers Excessive flexibility
FAS: Clinical Features
Symptoms range from mild to severe Abnormal facial features Smooth philtrum Small head size Shorter than average height Low body weight Poor coordination Hyperactive behavior Problems with the heart, kidneys, and bones Difficulty paying attention Poor memory Difficulty in school (math especially) Learning disabilities Speech and language delays Intellectual disability or low IQ Poor reasoning and judgment Sleep problems as baby Sucking problems as baby Vision and hearing issues
Down Syndrome: Associate Clinical Features
Heart defects Eye problems Hearing problems Dementia Obesity Leukemia Mild-severe Intellectual
FAS: Diagnosis
Facial Features (must have all 3): -Abnormalities such as the smooth philtrum, thin upper lip, wide-spaced eyes
Growth Issues:
-At or below the 10th percentile in height and weight
Central Nervous System
Structural:
-Head size at or below the 10th percentile
-Significant changes seen on MRIs or CTs
Neurological
-Problems that cannot be linked to any other cause (poor coordination, poor muscle control, problems with sucking as a baby)
Functional (must have 3)
-Cognitive, executive functioning, or motor functioning delays, attention problems, hyperactivity, and problems with social skills
Prenatal Alcohol Exposure Confirmation is not required for a diagnosis but is helpful
Down Syndrome: Diagnosis
- Determined by chromosome analysis
- 47 chromosomes instead of the usual 46
- Abnormal cell division on chromosome 21 resulting in 3 copies of the chromosome instead of the normal 2 copies.
- This form of Down syndrome is Trisomy 21
Genetic Variations:
- Trisomy 21
- Mosaic
- Translocation
Prenatal Testing
Screening:
-Blood test (serum screening tests)
-Ultrasound (sonogram)Diagnostic- 100% accurate in diagnosing
-Chorionic Villus Sampling (CVS) 9 and 11 weeks
-Amniocentesis- after 15 week
Newborn:
- Observation of physical traits
- Karyotype
- FISH (fluorescent in situ hybridization)
FAS: Treatment
Medical care- all the care needed for a typical child plus other professionals depending on their specific impairments (pediatrician, PCP, audiologist, immunologist, neurologist, ophthalmologist, OT, PT, SLP)
Medication- stimulants, antidepressants, neuroleptics, anti-anxiety pills
Behavior and education therapy friendship training, specialized math tutoring, executive functioning training, parent-child interaction therapy, behavior management training
Alternative approaches- biofeedback, auditory training, relaxation therapy, yoga, exercise, acupuncture, energy healing, vitamins, animal assisted therapy
Down Syndrome: Treatment
-No specific treatment
-May need surgery due to associated factors
Early intervention services should include:
- Speech and language therapy
- Physical therapy
- Occupational therapy
FAS: Prognosis
- No cure for FASDs
- Early intervention has been shown to improve the child’s development
