Syndromes Flashcards
(158 cards)
1
Q
Prader-Willi Syndrome
A
- A rare genetic disorder in which the paternal (father) genes on chromosome 15 are deleted or unexpressed resulting in a number of physical, mental, and behavioral problems.
- Very hard to get them to feed. Very low tone and floppy. As children they face obesity- always want to eat (but the opposite in infants)
2
Q
Prader-Willi Syndrome Prevalence
A
- 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
3
Q
Prader-Willi Syndrome History
A
- 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
4
Q
Prader-Willi Syndrome in infancy
A
- Hypotonia
- Distinct facial features: almond-shaped eyes
- Thin upper lip/downturned
- Head narrowing at temples
- FTT-failure to thrive-only in infancy, not the case in later years
- Lack of eye coordination
- Poor responsiveness
5
Q
Prader-Willi Syndrome in childhood
A
- Excessive food craving
- Weight gain (especially in trunk region)
- Hypogonadism- sex glands produce little to no hormones (low muscle and growth in boys)
- Poor growth: small stature hands/feet
- Learning disabilities (mild to moderate)
- Delayed motor development- probably due to hypotonic
- Speech problems
- Behavior problems
- Sleep disorders (Apnea)-most likely due to obesity
**Patients struggle intellectually because of insatiable hunger
6
Q
Specific Speech and Language Deficits PWS
A
- Speech sound errors- due to poor tongue position
- Hypernasality-hypotoncity affects VP closure
- Flat intonation
- Imprecise articulation
- Slow speaking rate
- Abnormal pitch
7
Q
Diagnosis of PWS
A
- 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
8
Q
Treatment and Care of PWS
A
- 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- keep food out of site, maybe change location, and visual cues
9
Q
PWS and Speech
A
- SLP will address speech and language issues in the child with PWS
- SLP will address feeding concerns in infancy
10
Q
Prognosis for PWS
A
- There is no cure for PWS- long term prognosis
- 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
- Swimming is recommended by OT, it’s repetitive, easy on the joints
11
Q
Dandy Walker Malformation (DWM)
A
-DW malformation is characterized by a hypoplastic or missing cerebellar vermis, enlarged 4th ventricle, and cyst of the posterior fossa
12
Q
DWM Prevalence/Prognosis
A
- DWM is estimated to occur in greater than 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
13
Q
DWM history
A
- 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
14
Q
Associated problems of DWM
A
- Hydrocephalus- headaches, and could impact eating
- Seizures
- Polycystic Kidneys- fluid in the kidney’s which causes enlargement
- Cardiac Anomalies
- Limb and facial abnormalities
- Symptoms of increased intracranial pressure
- ———Lethargy, emesis, irritability
15
Q
Associated symptoms of DWM (frequent)
Think Cerebellar symptoms
A
Frequent:
- Other CNS abnormalities/disorders may co-occur
- Decreased intelligence
- Unsteady gait
- Nystagmus- fast uncontrollable eye movement
- Lack of coordination
16
Q
Associated symptoms of DWM (occasional)
A
Occasional:
- Vision Problems
- Hearing Problems
- Cleft lip/palate
17
Q
DWM Diagnosis
A
- 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
18
Q
DWM Treatment/Management
A
- 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- (phenobarbatol-anticonvulsive drugs) drugs like these makes development harder
- Variable symptoms are treated as needed by (including PT, OT, ST)
19
Q
Fragile X
A
- 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.
20
Q
Prevalence of Fragile X
A
- Fragile X is one of the most common genetic disorders
- 1 in 4000 males
- 1 in 6000 females
21
Q
History of Fragile X
A
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
22
Q
Clinical Features of Fragile X (1)
A
- 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
You don’t want to do a form of therapy that causes kids with fragile x or autism to make consistent eye contact because its over stimulating for them. Early in infancy, development is driven by vision so if this is impaired, so is development
23
Q
Clinical Features of Fragile X (2)
A
- Autistic Behavior
- Sensory Integration Problems
- Gastro-esophageal Reflux
- Recurrent Otitis Media
- Seizures affect about 25% of people with Fragile X
- Flat Feet
- Flexible Joints
24
Q
Clinical Features of Fragile X (3)
A
- Low muscle tone- explains reflux
- Large body size
- High arched palate
- Scoliosis
- Large testicles
- Large forehead
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Clinical Features of Fragile X (4)
- Large ears
- Prominent jaw
- Long face
- Soft skin
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Diagnosis of Fragile X
- DNA testing is used to diagnosis Fragile X
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Treatment/Management of Fragile X
- 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
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Fragile X prognosis
Prognosis is dependent on the degree of intellectual disability and the severity of the other associated conditions
29
Neonatal Abstinence Syndrome 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
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Neonatal Abstinence Syndrome 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 (not seen as much)
31
Epidemiology NAS
- 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
32
Clinical Features of NAS 1
| Signs and Symptoms
- 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
33
Clinical Features of NAS 2
| characteristics of the baby
- Blotchy skin coloring (mottling)
- Diarrhea
- Excessive sucking
- Fever
- Hyperactive reflexes
- Increased muscle tone
- Irritability (exceedingly)
Sucking is a very primitive reflex and it is done to calm
34
Common Long Term Effects of NAS
| how does it effect girls and boys
- Boys – increased risk for ADHD and behavioral disorders
- Girls – increased risk for mood disorders
- Both – increased risk for mental retardation and learning impairments (Weissman, et. Al, 1999)
- Research has shown that there is a certain type of blanket that children with NAS responds to (due to proprioception)
35
Diagnostic Criteria of NAS
Toxicology Screen:
---Meconium/hair
---Urinalysis/blood
36
Diagnostic Criteria of NAS
NAS Scoring System – May help determine when to start, titrate, or terminate therapy
---Finnegan – Most common
---Lipsitz
---Modified scales per institution
-Year they started abusing drugs or alcohol is their mental age in terms of the addiction
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Treatment of NAS (management)
| Comforting the baby
Management of NAS:
- Swaddling
- Rocking the infant
- Reducing noise and lights
- Breastfeeding unless contraindicated (if the mother can do it, then it is encouraged)
- Team: ST, OT, PT, MD, Nursing, Mental Health Professionals, Social workers
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Treatment of NAS (Drug management of NAS)
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 (very rigid with schedules due to the medicines that need to be distributed)
- Connections, like breast feeding-affects development
39
Prognosis of NAS
- Long-term outcomes are highly dependent on whether or not the mother continues to use addictive and/or illicit drugs
- Environmental support/factors impact prognosis as well
- Weaning process is difficult if mothers have done more than 1 drug, because they all affect kids differently.
- Children have a lot of tremors
- Do not sleep well
- Prematurity is also common and it makes the situation worse (respiratory problems)
- Sucking during feeding is inconsistent
- A lot of parent education needs to be administered (big teaching process)
40
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.
41
Prevalence of Williams Syndrome
- 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********
42
History of Williams Syndrome
- 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
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Clinical Features of Williams Syndrome 1
- Small upturned nose
- Wide mouth
- Long philtrum
- Full lip
- Small chin
- Puffiness around the eyes
- Drooping cheeks
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Clinical Features of Williams Syndrome 2
- Dental abnormalities (slightly small, widely spaced teeth)
- Starburst (lacy white pattern in children with green and blue eyes)- can be seen in typical kids also- 10% of population has it. (defining in Williams syndrome)
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Associated Problems (consistent) (Williams syndrome) 1
- Cardiovascular issues
- Supravalvular Aortic Stenosis (Narrowing of the blood vessels)
- Low birth weight
- Feeding problems
- Hyperacusis
- Developmental Delays
46
```
Associated Problems (consistent) (Williams syndrome) 2
(Think about how they express themselves)
```
- Mild to moderate learning disabilities
- Overly friendly
- Lack of social inhibition
- Strength in expressive skills
47
Associated Problems (frequent) (Williams syndrome)
- Hypercalcemia – elevated blood calcium level- some problems that can occur- abdominal issues (constipations, frequent thirst, frequent urination, FTT due to poor appetite)
- Kidney abnormalities
- Musculoskeletal issues such as low muscle tone and joint laxity: loosening of joint bones
- Mental disability – 75% of WS
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Associated Problems of Williams Syndrome
- High blood pressure
- Irritability/colic-like
- Modified diet
- FTT
- Low muscle tone
- Distractibility
-Fine motor / spatial impairment- impacts
feeding and school work
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Other associated issues of Williams Syndrome (other names for the syndrome)
- 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.
-----Friendliness can be inappropriate, pragmatic issues
50
Treatment of Williams Syndrome
- 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
51
Prognosis of Williams Syndrome
- 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)
-Very significant heart issues, affects feeding due to endurance
52
Fetal Alcohol Syndrome
- 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
- Alcohol of any type can be damaging
53
Prevalence of FAS
- 1 in 500 babies are born with FAS (pretty high)
| - 1 in 100 babies have disabilities resulting from prenatal alcohol exposure (FAE)
54
FAS/FAE- Clinical features 1
| Body characteristics
- Symptoms range from mild to severe
- Abnormal facial features
- Smooth philtrum
- Small head size
- Shorter than average height
- Low body weight
- Poor coordination
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FAS/FAE- Clinical features 2
- Hyperactive behavior
- Problems with the heart, kidneys, and bones
- Difficulty paying attention
- Poor memory
- Difficulty in school (math especially)
- Learning disabilities
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FAS/FAE- Clinical features 3
- 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
- Don't feed well in infancy
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Diagnosis of FAS/FAE
1. Facial Features (must have all 3)
---Abnormalities such as the smooth philtrum, thin upper lip, wide-spaced eyes
2. Growth Issues
---At or below the 10th percentile in height and weight
3. Central Nervous System
- --Structural
-------Head size at or below the 10th percentile
-------Significant changes seen on MRIs or CTs
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Diagnosis of FAS/FAE 2
4. Neurological
- Problems that cannot be linked to any other cause (poor coordination, poor muscle control, problems with sucking as a baby)
5. 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
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Treatment of FAS/FAE
- 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
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Visual Features of FAS
| FACIAL
- Kids with FAS tend to seem more severe than those with NAS
- Epicanthal folds around the eyes
- Flat nasal bridge
- Small palpebral fissures
- Railroad track ears
- Upturned nose
- Smooth philtrum
- Thin upper lip
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Prognosis for FASDs
- No cure for FASDs
- Early intervention has been shown to improve the child’s development
- Average IQ is around 65
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Down Syndrome
- Individuals with Down syndrome have 47 chromosomes instead of the usual 46
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History of Down Syndrome
- Syndrome first described in mid-19th century.
- Identified in 1959.
- Named for the physician John Langdon who characterized the condition
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Prevalence of Down Syndrome
- 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
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Most Common Clinical Features of Down Syndrome
- Flattened facial features
- Small head
- Short neck
- Protruding tongue
- Upward Slanting eyes
- Unusually shaped ears
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Often Present Clinical Features of Down Syndrome
- Poor muscle tone
- Broad, short hands
- Single crease in palm
- Relatively short fingers
- Excessive flexibility
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Associated Clinical Features of Down Syndrome
- Heart defects- reflex is an issue due to problems with LES (lower esophageal sphincter)
- Eye problems
- Hearing problems
- Dementia
- Obesity
- Leukemia
- Mild-severe Intellectual
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Diagnosis of Down Syndrome 1
- 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 (most common)
- Mosaic – division in cell occurs after fertilization (can look like trisomy 21)
- Translocation
69
Diagnosis of Down Syndrome 2
- 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
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Newborn Diagnosis of Down Syndrome
- Observation of physical traits
- Karyotype
- FISH (fluorescent in situ hybridization) most common
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Treatment of Down Syndrome
- No specific treatment
- May need surgery due to associated factors
- Early intervention services should include:
- Speech and language therapy
- Physical therapy
- Occupational therapy
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Speech Issues associated with Down Syndrome
- May not say first words until 2 or 3 years.
- Understand relationships between words and concepts by 10-12 months but are lacking the neurological and motor skills to speak.
- Many pre-speech and pre-language skills are needed first:
- Imitation
- Turn taking
- Visual skills
- Auditory skills
- Tactile skills
- Oral motor skills
- Cognitive skills
- May also have feeding problems.
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Prognosis of Down Syndrome
- In 1983 the life expectancy was 25 compared to 60 today.
- Increased risk of Dementia with aging.
- Individuals with Down syndrome live fulfilling lives as long as they have good education programs, home environments, health care, family support, friends, and community.
74
Smith-Magenis
- SMS is a chromosome microdeletion/mutation syndrome that is characterized by a very distinct series of physical, developmental and behavioral features
- Includes varying levels of mental retardation, cranio-facial abnormalities, sleep disturbances and self-injurious behaviors
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Prevalence of SMS
- SMS occurs 1 in 25,000 births; equal in male and females
- Thought to be under diagnosed or misdiagnosed as :Williams syndrome, VCFS, PWS, DS (especially in the newborn period due to infantile hypotonia)
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History of SMS
- SMS occurs 1 in 25,000 births; equal in male and females
- Thought to be under diagnosed or misdiagnosed as :Williams syndrome, VCFS, PWS, DS (especially in the newborn period due to infantile hypotonia)
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SMS- Frequent Clinical Features (75%)
- OTOLARYNGOLOGIC:
- -------Middle ear and laryngeal anomalies
- -------Hoarse, deep voice
- CRANIOFACIAL/SKELETAL:
- ------Brachycephaly
- ------Broader wider face
- Midface hypoplasia
- Relative prognathism with age
- ------Broader face
- Broad, square-shaped face
- Everted, "tented" upper lip
- Deep-set, close-spaced eyes
- Short broad hands
- Dental anomalies
78
SMS- frequent clinical features 1
NEURO/BEHAVIORAL:
- Cognitive impairment/ developmental delay
- Generalized complacency/ lethargy (infancy)
- infantile hypotonia
- Sleep disturbance
- Inverted circadian rhythm of melatonin- get days and nights mixed up
- Stereotypic behaviors – repetitive, habitual behaviors
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SMS- frequent clinical features 2
- Self-injurious behaviors
- Speech delay
- Hyporeflexia- lessened or absent reflexes
- Signs of peripheral neuropathy
- Oral sensorimotor dysfunction (early childhood)
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SMS- Common clinical features ( >50%)
- Hearing loss
- Short stature
- Scoliosis
- Hyperacusis
- Tracheobronchial problems
- Velopharyngeal insufficiency- could cause hoarseness
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SMS- Clinical features (< 50%)
- Cardiac defects
- Thyroid function abnormalities
- Immune function abnormalities
- Renal/urinary tract abnormalities
- Seizures
- Forearm abnormalities
- Cleft lip/palate
- Retinal detachment
82
SMS-Specific Behavioral Issues
- Arm Hugging- trying to calm themselves to supply proprioception
- Hand Squeezing- trying to calm themselves to supply proprioception
- Hyperactivity and attention problems
- Prolonged Tantrums
- Sudden moodiness
- Explosive Outbursts
83
SMS- Diagnosis
- Prenatal testing is available for pregnancies at-risk
- Blood test called chromosome analysis to confirms or deletes the Trisomy 21
- FISH analysis
- Array genomic hybridization (aGH)
- Many children with SMS are also given psychiatric Dx of OCD, ADHD, and mood disorders
84
SMS- Treatment
- Early childhood intervention programs, special education, vocational training later in life, SLP, PT, OT, behavioral therapy, and sensory integration therapies
- Gastroenterologists and nutritionists
- Use of psychotropic medication
- Therapeutic management of the sleep disorder
85
SLP and Smith-Magenis (SMS)
- Early childhood: swallowing, feeding, oral sensorimotor development, oral motor movements
- Further development: use of sign language and total communication programs
86
SMS- Prognosis
- Early intervention is key
- People with SMS can expect to accomplish many of things their "typical" peers do—attend school, achieve in their outside areas of interest, be successfully employed, even move away from their family home
- Need a significant amount of support from their families and from school, work, and residential service providers to achieve these goals
- Appear to have a normal life expectancy, but no supporting research
87
Laundau-Kleffner
-Characterized by the sudden or gradual onset of aphasia in an otherwise typically developing child
88
Prevalence of Laundau-Kleffner
-Around 160 cases have been reported between 1957-1990, though exact prevalence is difficult to ascertain due to frequent misdiagnosis.
89
History of Laundau-Kleffner
- First identified in 1957 by Dr. William M. Landau and Dr. Frank R. Kleffner
- Dr. Kleffner headed the Central Institute for the Deaf in St. Louis, MO, an institution that provided services to children with hearing impairment and children with aphasia.
- Kleffner began noting children who developed acquired aphasia with a clearly epileptic EEG after a period of normal development
90
Diagnosis of Laundau-Kleffner
- Landau-Kleffner Syndrome is diagnosed through presence of infantile acquired aphasia, along with abnormal spike-and-wave brainwaves revealed through an EEG scan indicative of epileptic seizures.
91
Prognosis of Laundau-Kleffner
- Prognosis is characterized by immense variation.
- Aphasia may last for days or years. Recovery may be full, or some language difficulties may persist.
- However, most will outgrow seizures by the age of 15, and early intervention often leads to better outcomes.
92
Velocardial Facial Syndrome
- Missing a small part of chromosome 22 at the q11 region.
- Unknown cause of deletion, but this is one of the most frequent chromosome defects in newborns.
- 10% inherited
- Most “sporadic”
- 10% of individuals with VCFS do not have a deletion in the chromosome 22q11 region.
- Other chromosome defects
- Maternal diabetes
- Fetal alcohol syndrome
- Prenatal exposure to Accutane®
-Can be called Digeorge, but Digeorge is a sequence, not a syndrome. You can present with Digeorge sequence-immunological difficulties and complications, but not VCFS.
VCFS is a syndrome and it has genetic markers.
-Can have a child with VCFS or a child that has VCFS and Digeorge syndrome
93
Prevalence of Velocardial Facial Syndrome
- Many do not present with obvious anomalies at birth.
- 1/3 of individuals do not have CHD or overt clefts of the palate.
- Other associated problems may go unnoticed as they require special procedures (ultrasound, MRI).
- 1 in 1600 to 1 in 2000
- Fairly prevalent disorder
- You can have a number of different problems associated with it
94
History of Velocardial Facial Syndrome 1
- 1955, Eva Sedlačková
- First known cases appear in the medical literature which described a number of cases of children with hypernasal speech and reduced facial animation.
- 1968, Angelo DiGeorge
- Described the association of thymic aplasia, hypoparathyroidism, and congenital heart disease in children who rarely survived to adulthood so that the full range of clinical features could not be observed (behavioral and cognitive manifestations).
95
History of Velocardial Facial Syndrome 2
- 1968, Strong
- ---Published a report of a single family with multiple affected members that was the first publication to confirm as a genetic disorder that involved both physical manifestations and cognitive and behavioral disorders.
- 1976, Japanese literature
- ---Called conotruncal anomaly face syndrome (CAFS).
- 1978, Robert Shprintzen
- ---The delineation of velo-cardio-facial syndrome as a specific and distinct inherited genetic disorder occurred
96
Features of VCFS
-Many of the findings in VCFS are very common among other multiple anomaly syndromes
- Most common/consistent features:
- behavioral
- cognitive
- vascular
- BDs & LDs will not be evident until later in life and may go unrecognized for many years.
- Important to recognize the psychiatric manifestations of this syndrome at all developmental stages
97
Cognitive Issues of VCFS 1
- Children perform worse than would be expected by their cognitive level on tasks requiring:
- shifts of attention
- cognitive flexibility
- working memory
- visuospatial and numerical abilities
98
Cognitive Issues of VCFS 2
- When present, intellectual disabilities are usually relatively mild
- The cognitive profile:
- Relative strengths in the areas of reading, spelling, and rote memory
- Relative weaknesses in the areas of visuospatial memory and arithmetic
- Changes with development
- Usually a decline in IQ as move into adulthood
99
Common Speech Problems of VCFS
- Delayed development of speech and language skills
- Hypernasal speech due to velopharyngeal dysfunction
- Articulation disorders
- Voice disorders and laryngeal anomalies
- Language impairment
- Pragmatic and social skills difficulties
100
Possible Concomitant Disorders w/ VCFS
- ADHD
- Oppositional defiant disorder
- Specific and social phobias
- Generalized anxiety disorder
- Separation anxiety disorder
- Obsessive-compulsive disorder
- Major depressive disorder and dysthymia
- Autism spectrum
- By late adolescence and early adulthood, this picture seems to change as up 1/3 of the patients with VCFS develop psychotic disorders mostly resembling schizophrenia and schizoaffective disorder”
101
Diagnosis of VCFS
- Blood tests and tests to examine for immune system problems
- X-ray – to produce images of internal tissues, bones, and organs onto film.
- Echocardiography - Evaluate the structure and function of the heart
- Fluorescence in situ hybridization (FISH) studies – A blood test is ordered to look for a deletion in the chromosome 22q11.2 region.
- If a 22q11.2 deletion is detected in a child, then both parents are offered the FISH test to see if this deletion is inherited.
102
Treatment of VCFS 1
- Specific treatment for VCFS is determined based on the following:
- Child's age, overall health, and medical history
- The extent of the disease
- Child's tolerance for specific medications, procedures, or therapies
-Expectations for the course of the disease
Parent opinion or preference
103
Treatment of VCFS 2
- Heart defects will be evaluated by a cardiologist.
- A plastic surgeon and a speech pathologist evaluate cleft lip and/or palate.
- Speech and gastrointestinal specialists evaluate feeding difficulties.
- Immunology evaluations should be performed in all children with this deletion.
- In severe cases where immune system function is absent, bone marrow transplantation is required.
- Many will benefit from early intervention to help with muscle strength, mental stimulation, and speech problems
104
Prognosis of VCFS
- Small minority will not survive the first year of life.
- Majority will have a treatable heart condition and immune system disorder that will not be significant enough to interfere with survival.
- Most progress into adulthood with normal growth.
- Outcme potential often depends on heart condition
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Angelman
- Both Angelman Syndrome and PraderWilli Syndrome occur as a result of severe reductions of a gene on chromosome 15. What’s the difference? In AS, the abnormality is on the maternally derived chromosome 15, and for PWS, the abnormality is on the paternallyderived chromosome 15.
- Maternal-chromosome 15 issue
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History of Angelman
- 1965: Dr. Harry Angelman (left) described 3 children with similar characteristics of a stiff, jerky gait; absent speech; excessive laughter; and seizures. He called them “Puppet Children.”
- 1987: Dr. Ellen Magenis identified children with PraderWilli features with additional features of seizures and severe developmental delay. Genetic testing identified presence of microdeletions on maternallyderived chromosome 15.
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Consistent Clinical Features of Angelman
- Developmental delay
- Movement or balance disorder (usually ataxia)
- Behavioral uniqueness (frequent smiling, easily excitable, handflapping movements)
- Speech impairment (none or minimal use of words)
- Hand flapping is thought to be due to inability to communicate
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Frequent Clinical Features of Angelman
- Delayed, disproportionate head
- growth (microcephaly by 2 yrs.)
- Seizures (before 3 yrs.)
- Abnormal EEG (in first 2 yrs.)
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Associated Clinical Features of Angelman 1
- Flat occiput
- Occipital groove
- Protruding tongue
- Tongue thrusting; suck/swallowing disorders
- Feeding problems-seen in infancy or early childhood, dissipates with age
- Prognathia
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Associated Clinical Features of Angelman 2
- Wide mouth
- Widespaced teeth
- Frequent drooling
- Strabismus
- Hypopigmented skin
- Hyperactive LE deep tendon reflexes
- Uplifted, flexed arm position
- Widebased gait
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Associated Clinical Features of Angelman 3
- Increased sensitivity to heat
- Abnormal sleepwake cycles/ diminished need for sleep
- Excessive chewing/mouthing behaviors
- Attraction to/fascination with water and/or crinkly items such as paper
- Abnormal food related behavior
- Obesity
- Scoliosis
- Constipation
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Diagnosis of Angelman
- AS results from severe reduction of the UBE3A gene on the maternally derived chromosome 15.
- If clinical features are present, genetic testing should be performed.
- Most common diagnosis is between 2 5 years of age. This is because this is when the characteristic behaviors become most evident.
- Other common misdiagnoses include Autism Spectrum Disorders and Cerebral Palsy.
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Treatment of Angelman
- Consistent behavioral intervention and stimulation to over come developmental challenges
- Behavioral treatment programs have been shown to benefit abnormal sleep/wake cycles
- ABA has been found to be an effective instructional method
- Anticonvulsant medication may be necessary to treat seizures
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SLP Treatment of Angelman 1
- Handflapping motions are thought to result from inability to communicate effectively
- Conversational speech will never develop in highest functioning individuals
- Individuals with AS have much better comprehension than expression (better receptively)
- Severe seizures may inhibit reaching first stages of communication, such as establishing eye contact
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SLP Treatment of Angelman 2
- Most common aim for treatment is teaching sign language
- Other options include picture based communication boards or speech generating devices
- Carryover is key! SLP must collaborate with parents and other professionals in order to help the child learn to functionally communicate-must be consistent
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Prognosis of Angelman
- Mobility issues become a more predominant concern as the child ages, and is often associated with concerns of obesity.
- If severe ataxia is present, the child may lose his or her ability to walk if ambulation is not encouraged.
- Scoliosis may develop in adolescence, especially if the individual is non ambulatory.
- Lifespan is not dramatically shortened.
- Don’t do fine motor that is taxing with another activity
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Cure for Angelman
- A cure for AS has been found in mice!
| - With a recently received grant, the Foundation for Angelman Syndrome Therapeutics is beginning their first human study
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Asperger's Syndrome
- An autism spectrum disorder
- ¨ Characterized by difficulty with social interaction, repetitive patterns of behavior and interests
- ¨ Demonstrate limited empathy for peers
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Prevalence of Asperger's
- The incidence of Asperger syndrome is not well established.
- However, experts in population studies estimate that 2 in 10,000 children have the disorder.
- The prevalence of Autism Spectrum Disorders in 2007 was estimated at 1 in 150 children.
- The prevalence of Asperger syndrome has been estimated by studies to be 1 in 500 children.
- Boys are 3 to 4 times more likely to be diagnosed with AS than girls.
- Prevalence is low due to high level of functioning
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History of Asperger's
- Originally described by Austrian Pediatrician, Hans Asperger in 1944.
- Based on the observation of 4 children with common Asperger symptoms
- Asperger Syndrome became a distinct diagnosis in Europe in 1992 when criteria for the syndrome were published in the International Classification of Diseases diagnostic manual.
- Asperger Syndrome became recognized as a distinct diagnosis in the United States in 1994 when criteria for the syndrome were published in the DSM.
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Possible Causes of Asperger's
- Unknown
- ¨ Possible genetic basis (passed down primarily from father)
- ¨ Harmful substance consumption during pregnancy
- ¨ Common in Silicon Valley children (parents have very organized minds)
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Common Social Features of Asperger's
- Difficulties with peer relationships (Possible carry-over to parent and family relationships)
- Inappropriate attempts to initiate social interactions and make friends
- Need for and adherence to structure, routine, rituals, and/or schedules
- Socially inappropriate behavior
- Failure to understand social cues
- Inability to understand and follow social norms
- Inability to “put himself in the other person’s shoes” –empathy piece is missing
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Nonverbal Communication Features of Asperger's
- Limited use of gestures
- Inability to use or understand body language
- Awkward or inappropriate use of non-verbal communication
- Flat affect or inappropriate facial expressions
- Inability to read the facial expressions of others
- Lack of eye contact
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Sensory Features of Asperger's
- Possible sensitivities to sound, touch, taste, sight, smell, pain, temperature, and food textures
- Can be hypo-sensitive to some stimuli and hyper-sensitive to others.
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Speech and Language Features of Asperger's 1
- No language development delay
- Possible advanced vocabulary
- Abnormalities in production of speech and language
- Pedantic speech
- Odd pitch (monopitch), intonation (incorrect or absent), prosody, & rhythm
- Difficulties with abstract language- makes literal interpretations
- Difficulties with the social rules of language
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Speech and Language Features of Asperger's 2
- Interruptions, irrelevant information, maintaining topic, turn
- talking, “monologing”
- Unusually formal or idiosyncratic ways that are not understood
- Lack a “filter”- Says whatever comes to mind
- Amount of speech depends on emotional state (relevant speech)
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Common Activities/Interests of Asperger's
- Has an “obsessive” interest that causes: exclusion of other activities, is narrow or limited to a very specific topic, that may be uncommon for age especially in terms of amount and type of facts the child knows, and that may overrule his or her desire for social relationships.
- Child may also lack interactive play.
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Diagnosis of Asperger's
- Difficult Several screenings but no single standardized tool
- Currently, must meet DSM-IV criteria Made through observation and developmental Hx
- NINDS suggests 2 stages:
- ---Stage 1 – Well Child Check-up
- ---Stage 2- Comprehensive Exam by diagnostic team.
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Treatment of Asperger's
- Focuses on:
- OT/PT for motor coordination and sensory integration
- Social skills intervention
- Intervention for anxieties, repetitive and obsessive behaviors, and co-occurring disorders
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SLP Treatment of Asperger's
- Initiation of social interactions
- Use and understanding of verbal and nonverbal communication in various settings
- Education of parents and teachers
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Prognosis of Asperger's
- Very good prognosis of a fully functional and independent life similar to that of a neurotypical individual especially with social skills intervention
- Difficulties in social interactions may persist throughout life which may result in bullying, problems in romantic relationships, depression, loneliness, and difficulties keeping a job.
- More interested in interacting with adults or try to avoid social settings, prefer to be alone
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Autism
- Pervasive developmental disorder of unknown etiology with suspected genetic and environmental triggers.
- Affects the brain's normal development of social and communication skills.
- Appears in the first 3 years.
- Stereotypical behaviors (self stimulation) and perseveration of interest on an object are often observed.
- Unusual response to sensory stimuli
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Prevalence of Autism
- It is estimated that between 1 in 80 and 1 in 240 with an average of 1 in 110 children in the United States have an ASD.
- Estimate 6 out of 1000 children will have autism
- Boys are 4x more likely than girls
- Comorbidity is common with:
- Intellectual disability
- Seizure disorders
- Anxiety, depression
- Hyperactivity, obsessive compulsive disorder
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Diagnosis of Autism
-The diagnosis of autism requires disturbances in each of three domains:
1. social relatedness
- includes marked impairment in non-verbal communication, peer relationships and social-emotional reciprocity.
2. communication/play
- includes either a delay or total lack of spoken language and lack of developmentally appropriate make-believe or social play.
3. restricted interests and activities
- includes encompassing preoccupations, adherence to non-functional routines or rituals, stereotypies and motor mannerisms.
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Specific Assessment Tools for Autism
- Checklist for Autism in Toddlers (CHAT) or modified checklist (M-CHAT)
- Autism Screening Questionnaire.
- Autism Diagnostic Interview - Revised (ADI-R)
- Autism Diagnostic Observation Schedule (ADOS)
- Childhood Autism rating Scale (CARS)
- Gilliam Autism Rating Scale
- Pervasive Developmental Disorders Screening Test - Stage 3
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Treatment for Autism 1
- SLP- communication, social interactions, improved eating (esp. tolerance- very limited flexibility with food)
- OT/PT- coordination, motor control
- OT- sensory integration
- MDs and psychiatrists- medicines for related
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Treatment for Autism 2
- Applied Behavioral Analysis (ABA) - Skinner- 1930s
- This program is for younger children with an autism spectrum disorder. Uses a one-on-one teaching approach that reinforces the practice of various skills. The goal is to get the child close to normal developmental functioning.
- Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH)
- Erick Schopler- 1970s
- It uses picture schedules and other visual cues that help the child work independently and organize and structure their environments. Do not expect children to achieve typical development with treatment.
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Treatment for Autism 3
- Early Start Denver Model (ESDM)
- Rogers & Dawson- 2000s
- encompasses a developmental curriculum that defines the skills to be taught at any given time and a set of teaching procedures used to deliver this content.
- Pivotal Response Training (PRT) Koegel & Koegel-1970s
- Child directed, goal of PRT is to produce positive changes in the pivotal behaviors, leading to improvement in communication skills, play skills, social behaviors and the child's ability to monitor his or her own behavior. by focusing on critical, or "pivotal," behaviors that affect a wide range of behaviors
- Child centered
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Treatment for Autism 4
- Floortime (DIR)
- Greenspan-1980s
-is to help the child reach six developmental milestones that contribute to emotional and intellectual growth: self-regulation and interest in the world, intimacy or a special love for the world of human relations, two-way communication, complex communication, emotional ideas, emotional thinking
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1. Infants with Prader-Willi syndrome are often obese.
False - children
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2. Children with Prader-Willi syndrome often have sleep apnea.
True
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3. Hyponasality is a feature of PWS.
False- hypernasality
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4.Current estimates suggest 75% of children with Dandy Walker Malformation die in infancy.
False
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5. One of the associated problems of DWS is hydrocephalus.
True
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6. DWS can be diagnosed prenatally via ultrasound.
True
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7. Fragile X syndrome occurs more often in females than in males.
False
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8. Girls with NAS have an increased risk for mood disorders.
True
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9.Williams syndrome effects Caucasians more frequently.
False- proportionate
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10.Children with LKS usually outgrow seizures by the age of 15 years.
True
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11.VCFS is the same as DiGeorge syndrome.
False
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12.Children with Angelman syndrome often exhibit movement /balance disorders.
True- ataxic like movement
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Rett Syndrome
- Occurs almost exclusively in girls
- May be mis-diagnosed as autism or CP
- Many cases linked to defect in the methl-CpG-binding protein 2 gene. This gene is on the X chromosome
- 1 out of 10,000 children
- Lack of hand control makes it difficult to do any type of augmentative technique. May need to do eye gaze
- use a total communication approach
- boys usually die due to only having 1 X chromosome
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Characteristics of Rett Syndrome 1
- Usually exhibit normal development for the first 6-18 months of life
- Symptoms range from mild to severe
- Symptoms may include:
- Apraxia
- Breathing problems (worsen with stress) – usually normal during sleep and abnormal during awake times
- Decrease in development
- Arms and legs become floppy (often first sign that is noticed)
- Cognitive decline/Learning problems
- Scoliosis
- Unsteady gait, may exhibit toe walking
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Characteristics of Rett Syndrome 2
- Seizures
- Slowing head growth beginning at 5-6 mths of age
- Loss of normal sleep patterns
- Loss of purposeful hand movements
- Loss of social engagement
- Ongoing and severe constipation
- GERD- Gastroesophageal reflux disease
- Poor circulation (bluish arms/legs)
- Severe language disorder
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Three Types of Rett Syndrome
1. Atypical
- Begins early, soon after birth (or after 18 months)
- Can occur as late as 3-4
- Occurs in a boy
- Speech and hand skill deficits are mild
2. Classical- normal symptoms of Rett
3. Provisional- some symptoms between 1-3
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Treatment of Rett Syndrome
- Treatment of specific problems such as GERD
- Assistance with activities of daily living
- Physical Therapy to minimize contracture
- Possible g-tube
- Medication for seizures
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Prognosis of Rett Syndrome
- Slow progression of disease into the teen years
- May exhibit some improvement in teen years (breathing may improve, seizures may decrease)
- Regression and delays vary
- Life expectancy not well studied, survival into mid 20’s likely with an average for girls into mid 40’s
- Death often related to seizure, aspiration pneumonia, malnutrition
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The SLP and Rett Syndrome
- Likely address language issues through a total communication approach
- Verbal communication is more impaired
- May use eye-gaze due to poor motor control of limbs
- May address oral-motor feeding
