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
Down Syndrome: Speech Issues
- 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.
Down Syndrome
Individuals with Down syndrome have 47 chromosomes instead of the usual 46
Down Syndrome: Prognosis
- 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.
Down Syndrome: History
-Syndrome first described in mid-19th century.
-Identified in 1959.
-Named for the physician John Langdon who characterized the condition
Smith-Magenis (SMS)
- 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
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
Smith-Magenis: Prevalence
- 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)
Down Syndrome: Most Common Clinical Features
Flattened facial features Small head Short neck Protruding tongue Upward Slanting eyes Unusually shaped ears
SMS: History
- Ann C.M. Smith, MA, DSc (Hon), a genetic counselor & Dr. R. Ellen Magenis, a physician and chromosome expert described the first group of children with this deletion in the 1980’s.
- Most people with the diagnosis have been identified since 1995 as a result of improved laboratory techniques that allow the accurate detection of this chromosomal deletion
Down Syndrome: Often Present Clinical Feature
Poor muscle tone Broad, short hands Single crease in palm Relatively short fingers Excessive flexibility
SMS: Frequent Clinical Features (75%)
OTOLARYNGOLOGIC:
Middle ear and laryngeal anomalies(Hoarse, deep voice)
CRANIOFACIAL/SKELETAL: Brachycephaly Midface hypoplasia Relative prognathism with age Broad, square-shaped face Everted, "tented" upper lip Deep-set, close-spaced eyes Short broad hands Dental anomalies
NEURO/BEHAVIORAL:
Cognitive impairment/ developmental delay
Generalized complacency/ lethargy (infancy)
infantile hypotonia
Sleep disturbance
Inverted circadian rhythm of melatonin
Stereotypic behaviors
Self-injurious behaviors Speech delay Hyporeflexia Signs of peripheral neuropathy Oral sensorimotor dysfunction (early childhood)
Down Syndrome: Associate Clinical Features
Heart defects Eye problems Hearing problems Dementia Obesity Leukemia Mild-severe Intellectual
SMS: Common Clinical Features (>50%)
Hearing loss Short stature Scoliosis Hyperacusis Tracheobronchial problems Velopharyngeal insufficiency
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)
SMS: Clinical Featured (<50%)
Cardiac defects Thyroid function abnormalities Immune function abnormalities Renal/urinary tract abnormalities Seizures Forearm abnormalities Cleft lip/palate Retinal detachment
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
SMS: Specific Behavioral Issues
Arm Hugging Hand Squeezing Hyperactivity and attention problems Prolonged Tantrums Sudden moodiness Explosive Outbursts
Down Syndrome: Speech Issues
- 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.
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
Down Syndrome: Prognosis
- 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.
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
Smith-Magenis (SMS)
- 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
SMS: SLP
- Early childhood: swallowing, feeding, oral sensorimotor development, oral motor movements
- Further development: use of sign language and total communication programs
Smith-Magenis: Prevalence
- 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)
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
SMS: History
- Ann C.M. Smith, MA, DSc (Hon), a genetic counselor & Dr. R. Ellen Magenis, a physician and chromosome expert described the first group of children with this deletion in the 1980’s.
- Most people with the diagnosis have been identified since 1995 as a result of improved laboratory techniques that allow the accurate detection of this chromosomal deletion
Laundau-Kleffner
Characterized by the sudden or gradual onset of aphasia in an otherwise typically developing child
SMS: Frequent Clinical Features (75%)
OTOLARYNGOLOGIC:
Middle ear and laryngeal anomalies(Hoarse, deep voice)
CRANIOFACIAL/SKELETAL: Brachycephaly Midface hypoplasia Relative prognathism with age Broad, square-shaped face Everted, "tented" upper lip Deep-set, close-spaced eyes Short broad hands Dental anomalies
NEURO/BEHAVIORAL:
Cognitive impairment/ developmental delay
Generalized complacency/ lethargy (infancy)
infantile hypotonia
Sleep disturbance
Inverted circadian rhythm of melatonin
Stereotypic behaviors
Self-injurious behaviors Speech delay Hyporeflexia Signs of peripheral neuropathy Oral sensorimotor dysfunction (early childhood)
Laundau-Kleffner: Prevalence
Around 160 cases have been reported between 1957-1990, though exact prevalence is difficult to ascertain due to frequent misdiagnosis
SMS: Common Clinical Features (>50%)
Hearing loss Short stature Scoliosis Hyperacusis Tracheobronchial problems Velopharyngeal insufficiency
Laundau-Kleffner: History
- 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
SMS: Clinical Featured (<50%)
Cardiac defects Thyroid function abnormalities Immune function abnormalities Renal/urinary tract abnormalities Seizures Forearm abnormalities Cleft lip/palate Retinal detachment
Laundau-Kleffner: Diagnosis
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.
SMS: Specific Behavioral Issues
Arm Hugging Hand Squeezing Hyperactivity and attention problems Prolonged Tantrums Sudden moodiness Explosive Outbursts
SMS: Specific Behavioral Issues
Arm Hugging Hand Squeezing Hyperactivity and attention problems Prolonged Tantrums Sudden moodiness Explosive Outbursts
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
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
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
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
SMS: SLP
- Early childhood: swallowing, feeding, oral sensorimotor development, oral motor movements
- Further development: use of sign language and total communication programs
SMS: SLP
- Early childhood: swallowing, feeding, oral sensorimotor development, oral motor movements
- Further development: use of sign language and total communication programs
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
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
Laundau-Kleffner
Characterized by the sudden or gradual onset of aphasia in an otherwise typically developing child
Laundau-Kleffner
Characterized by the sudden or gradual onset of aphasia in an otherwise typically developing child
Laundau-Kleffner: Prevalence
Around 160 cases have been reported between 1957-1990, though exact prevalence is difficult to ascertain due to frequent misdiagnosis
Laundau-Kleffner: Prevalence
Around 160 cases have been reported between 1957-1990, though exact prevalence is difficult to ascertain due to frequent misdiagnosis
Laundau-Kleffner: History
- 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
Laundau-Kleffner: History
- 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
Laundau-Kleffner: Diagnosis
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.
Laundau-Kleffner: Diagnosis
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.
Laundau-Kleffner: Prognosis
- 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.
Velocardial Facial Syndrome (VCFS)
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®
VCFS: Prevalence
- 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
- *DiGeorge is a sequence of events that occur not a syndrome (VCSF is a syndrome w/genetic markers)
VCFS: History
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).
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
VCFS: Features
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
VCFS: Cognitive Issues
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
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
VCFS: Common Speech Problems
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
VCFS: Possible Concomitant Disorders
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”
VCFS: Diagnosis
- 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.
VCFS: Treatment
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
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
VCFS: Prognosis
- 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.
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 paternally derived chromosome 15.
Angelman: History
- 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.
Angelman: Consistent Clinical Features
Developmental delay
Movement or balance disorder (usually ataxia)
Behavioral uniqueness (frequent smiling, easily excitable, handflapping movements)
Speech impairment (none or minimal use of words)
Angelman: Frequent Clinical Features
Delayed, disproportionate head
growth (microcephaly by 2 yrs.)
Seizures (before 3 yrs.)
Abnormal EEG (in first 2 yrs.)
Angelman: Associated Clinical Features
Flat occiput Occipital groove Protruding tongue Tongue thrusting; suck/swallowing disorders Feeding problems Prognathia Wide mouth Widespaced teeth Frequent drooling Strabismus Hypopigmented skin Hyperactive LE deep tendon reflexes Uplifted, flexed arm position Widebased gait 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 (in older children) Scoliosis Constipation
Angelman: Diagnosis
- 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.
Angelman: Treatment
- 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
Angelman: SLP Treatment
- 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
- Severe seizures may inhibit reaching first stages of communication, such as establishing eye contact
- 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
Angelman: Prognosis
- 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.
Angelman: Cure
- 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
Asperger’s Syndrome
An autism spectrum disorder
Characterized by difficulty with social interaction, repetitive patterns of behavior and interests
Demonstrate limited empathy for peers
Asperger’s Syndrome: Prevalence
- 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.
Asperger’s Syndrome: History
- 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.
Asperger’s Syndrome: Possible Cause
Unknown
- Possible genetic basis (passed down primarily from father)
- Harmful substance consumption during pregnancy
- Common in Silicon Valley children (parents have very organized minds)
Asperger’s Syndrome: Common Social Features
- 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”
Asperger’s Syndrome: Nonverbal Communication Features
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
Asperger’s Syndrome: Sensory Features
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.
Asperger’s Syndrome: Speech and Language Features
- 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
- 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
Asperger’s Syndrome: Common Activities/Interests
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.
Asperger’s Syndrome: Diagnosis
- Difficult(Several screenings but no single standardized tool)
- Currently, must meet DSM-IV criteriaMade through observation and developmental Hx
-NINDS suggests 2 stages:
Stage 1 – Well Child Check-up
Stage 2- Comprehensive Exam by diagnostic team.
Asperger’s Syndrome: Treatment
Focuses on:
- OT/PT for motor coordination and sensory integration
- Social skills intervention
- Intervention for anxieties, repetitive and obsessive behaviors, and co-occurring disorders
Asperger’s Syndrome: SLP Treatment
Initiation of social interactions
- Use and understanding of verbal and nonverbal communication in various settings
- Education of parents and teachers
Asperger’s Syndrome: SLP Treatment
Initiation of social interactions
- Use and understanding of verbal and nonverbal communication in various settings
- Education of parents and teachers
Asperger’s Syndrome: Prognosis
- 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.
Asperger’s Syndrome: Prognosis
- 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.
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
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
Autism: Prevalence
- 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
Autism: Prevalence
- 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
Autism: Diagnosis
The diagnosis of autism requires disturbances in each of three domains:
-social relatedness (includes marked impairment in non-verbal communication, peer relationships and social-emotional reciprocity.)
- communication/play (includes either a delay or total lack of spoken language and lack of developmentally-appropriate make-believe or social play.)
- restricted interests and activities (includes encompassing preoccupations, adherence to non-functional routines or rituals, stereotypies and motor mannerisms)
Autism: Diagnosis
The diagnosis of autism requires disturbances in each of three domains:
-social relatedness (includes marked impairment in non-verbal communication, peer relationships and social-emotional reciprocity.)
- communication/play (includes either a delay or total lack of spoken language and lack of developmentally-appropriate make-believe or social play.)
- restricted interests and activities (includes encompassing preoccupations, adherence to non-functional routines or rituals, stereotypies and motor mannerisms)
Autism: Specific Assessment Tools
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
Autism: Specific Assessment Tools
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
Autism: Treatment
- SLP- communication, social interactions, improved eating (esp. tolerance)
- OT/PT- coordination, motor control
- OT- sensory integration
- MDs and psychiatrists- medicines for related
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.
Autism: Treatment
- SLP- communication, social interactions, improved eating (esp. tolerance)
- OT/PT- coordination, motor control
- OT- sensory integration
- MDs and psychiatrists- medicines for related
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.
Autism: More Treatment
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 (or child centered), 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
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
Autism: More Treatment
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 (or child centered), 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
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
