Syndromes and Disorders Flashcards
Prader-Willi Syndrome Definition
rare genetic disorder in which the paternal genes on chromosome 15 are deleted or unexpressed resulting in a # of physical, mental, and behavioral problems
in infancy, super low tone and not interested in feeding
as children, they face obesity because they’re insatiable
Prevalence of Prader-Willi Syndrome
1 out of 10,000 to 15,000 live births diagnosed with it
Impacts more than 400,000 worldwide
Boys and girls affected equally
Clinical Features of Prader-Willi Syndrome in Infancy
Hypotonia Distinct facial features: almond-shaped eyes Thin upper lip/downturned Head narrowing at temples FTT only in infancy Lack of eye coordination Poor responsiveness
FTT
failure to thrive
Clinical Features of Prader-Willi Syndrome in Childhood
Excessive food craving
Weight gain (especially in the trunk region)
Hypogonadism (little to no hormones produced by sex glands)
Poor growth: small stature, hands/feet
Mild to moderate learning disabilities
Delayed motor development
Speech problems
Behavior problems
Sleep disorders (apnea)-related to obesity
Early FTT may cause other disorders
Hypotonic (inactivity)
Specific Speech and Language Deficits of Prader-Willi Syndrome
Speech sound errors (attributed somewhat to hypotonicity)
Hypernasality (hypotonia: inadequate closure)
Flat intonation
Imprecise articulation
Slow speaking related
Abnormal pitch
Treatment & Care of Prader-Willi Syndrome
Nutrition & diet modification
Growth hormone treatment
Sex hormone treatment
Therapies: PT, OT, ST, Developmental therapy, nutrition, mental health therapy
Environmental modifications: keep food hidden/out of sight
Speech Considerations in Prader-Willi Syndrome
SLP will address speech/language issues in child with this
SLP will address feeding concerns in infancy
Prognosis for Prader-Willi Syndrome
No cure
Most will require specialized care & supervision throughout lives (long-term prognosis often b/c of feeding issues)
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, & behavioral delays
Dandy Walker Malformation
Characterized by a hypoplastic or missing cerebellar vermis, enlarged 4th ventricle, & cyst of the posterior fossa
Prevalence of Dandy Walker Malformation
Estimated to occur in >1 in 25,000 live births; most common congenital malformation of the cerebellum
Mortality rates have decreased over time with medical advances
Current estimates suggest 27% of individuals with it die early
Prognosis in Dandy Walker Malformation
Overall, considered to be good & hopeful for those that survive
Best factor is absence of other congenital defects
Associated Problems of DW Malformation
Hydrocephalus, seizures, polycystic kidneys, cardiac anomalies, limb & facial abnormalities, headaches from hydrocephalus
Symptoms of increased intracranial pressure: lethargy, emesis, irritability
Frequent associated symptoms of DW Malformation
Other CNS abnormalities/disorders may co-occur, decreased intelligence, unsteady gait, nystagmus, lack of coordination
Occasional associated symptoms of DW Malformation
Vision problems, hearing problems, cleft lip/palate
Treatment & Management of DW Malformation
Early treatment includes removing membranes of posterior fossa (high mortality rates)
Surgical management currently include shunting 4th ventricle to drain excess CSF buildup (caused by cyst formation)
Anticonvulsive therapy or medication commonly needed
Variable sx’s treated as needed by PT, OT, ST, etc.
Most common anticonvulsant used in tx of DW malformation
phenobarbital
Polycystic kidneys
numerous fluid-filled pockets/cysts resulting in massive enlargement of kidneys
What is Fragile X Syndrome?
X-linked condition caused by a mutation FMR1 gene on the X chromosome; Usually inherited from the mother who is a carrier of the condition
Fragile X Inheritance
Complicated; FMR1 mutation involves involves a region of repeating DNA bases on the gene
FMR1 gene with 55-199 repeats is said to have…
a premutation; premutations passed down in an egg may or may not develop into a full mutation
FMR1 gene with 200 or more repeats is said to have…
a full mutation
Prevalence of Fragile X Syndrome
1 of the most common genetic disorders
1 in 4000 boys; 1 in 6000 girls
Name Fragile X comes from:
broken or fragile appearance of the X chromosome
Clinical Features of Fragile X
Delay in crawling, walking, rotating; hand clapping or hand biting; hyperactive or impulsive behavior; anxiety & unstable mood; ID; S-L delay; tendency to avoid eye contact; autistic behavior; sensory integration probs; gastro-esophageal reflux; recurrent otitis media; seizures (in ~25%); flat feet; flexible joints; low muscle tone (explains reflux); large body size; high arched palate; scoliosis; large testicles; large forehead; large ears; prominent jaw; long face; soft skin
Treatment/Management of Fragile X
No specific treatment; Tx as indicated for any accompanying health issues; OT for sensory integration
ST and Fragile X
May be needed for problems with poor intelligibility, pragmatics, grammar, oral motor difficulties, & phonological problems
Prognosis of Fragile X
Dependent on the degree of ID and severity of other associated conditions; about a 1/3 will also have autism
Neonatal Abstinence Syndrome Prenatal
Collection of symptoms found in newborns that have been exposed to addictive drugs in the womb; drugs pass through the placenta to the infant
Once infant is born & no longer receiving the drug(s), he/she will go through withdrawal (which is the syndrome)
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; subsequently go through withdrawal when drugs are withdrawn (less likely type: usually very careful)
Epidemiology of 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)
More commonly seen in urban areas
Signs & Symptoms of NAS typically begin after
48-72 hours after birth, may take up to 10 days (sometimes it’s after 2 to 4 wks)
Signs & Symptoms of NAS depend on:
the drug(s) the mother used, how long she used the drug(s), the amount, & whether the baby was premature or full term
Clinical Features of NAS
Blotchy skin coloring (mottling), diarrhea (skin breakdown), excessive sucking (primitive reflex but also calming behavior), fever, hyperactive reflexes, increased muscle tone (over excitability posture), (extreme) irritability
Also tremors; don’t sleep well
Common Long-Term Effects of NAS for Boys
increased risk for ADHD and behavioral disorders
Common Long-Term Effects of NAS for Girls
increased risk for mood disorders
Common Long-Term Effects of NAs for both boys and girls
increased risk of mental retardation and learning impairments
NAS Scoring System
may help determine when to start, titrate, or terminate therapy (Finnegan, Lipsitz, Modified scales per institution)
Management of NAS
Swaddling, rocking the infant, reducing noise and lights, breastfeeding unless contraindicated
TEAM: SLP, OT, PT, nursing, MD, mental health professionals, social workers
Drug Management of NAS
Opioids, phenobarbital, methadone, morphine
Opioids are used for ______ in NAS treatment
opioid and polydrug withdrawal
Phenobarbital used for ______ in NAS treatment
polydrug withdrawal (most common)
Methadone used for _____ in NAS treatment
opioid withdrawal
Morphine used for ______ in NAS treatment
used for polydrug withdrawal; helps control seizures
Prognosis for NAS
long-term outcomes highly dependent on whether or not the mother continues to use addictive &/or illicit drugs
Environmental support/factors impact as well (carryover)
confounding effects of multiple drug exposure
Williams Syndrome
Caused by the deletion of genetic material from chromosome 7; loss of 1 of 2 copies of elastin protein in chromosome 7 is often associated with the cardiovascular & musculoskeletal issues seen
Prevalence of Williams Syndrome
1 in every 10,000 births; equal male to female ratio; proportionate across rate; estimated 20,000 to 30,000 individuals in US have it; unlikely for other family members to have it but if the person who has it plans to have kids, child has 50% chance of also having diagnosis
Williams Syndrome full name
Williams-Beuren Syndrome
Similarities among pts. with Drs. Williams and Beuren
Cardiovascular disease, Learning disabilities & developmental delays, facial features
Clinical Features of Williams Syndrome
small upturned nose, wide mouth, long philtrum, full lip, small chin, puffiness around eyes, drooping cheeks, dental abnormalities (slightly small, widely spaced teeth), starburst
Starburst in Williams Syndrome
white lacy pattern in green & blue eyes; can have it typically as well (about 10% of rest of population)
Consistent Associated Problems in Williams Syndrome
cardiovascular issues, supravalvular aortic stenosis (narrowing of blood vessels), low birth weight, feeding problems, hyperacusis, developmental delays, mild-moderate learning disabilities, overly friendly, lack of social inhibition, strength in expressive skills
Frequent Associated Problems in Williams Syndrome
hypercalcemia (elevated blood calcium level), kidney abnormalities, musculoskeletal issues such as low muscle tone & joint laxity (loosening of joint bones), mental disability (75% of those with this syndrome)
Hypercalcemia: recurrent problems
abdominal sx’s: nausea, constipation, pain, poor appetite, vomiting, frequent thirst & urination
Other associated problems in Williams Syndrome
HBP, irritability/colic-like, modified diet, FTT, low muscle tone, distractability, fine motor/spatial impairment (impacts feeding, schoolwork, writing)
Williams Syndrome is also sometimes called..
Elfin Syndrome
Cocktail Party Syndrome
-both inappropriate
Elfin Syndrome
Inappropriate name for Williams Syndrome
Adult stature is slightly smaller than avg & facial features become more apparent with age
Cocktail Party Syndrome
Inappropriate name for Williams Syndrome
Clients have excellent speech, appear to have strong social skills, fixated eye contact, & extreme friendliness
Many people with WS prefer to talk to older individuals rather than peers
Treatment of Williams Syndrome (WS)
Modified diet, monitor calcium levels
Heart surgery
PT (for joint issues, motor developmental delays, low muscle tone)
ST and WS
Feeding as infants, social skills intervention, cognition, receptive language, expressive vocabulary +ability to tell narratives+, therapy most effective when accessing strengths
Prognosis for WS
No cure
Usually unable to live independently
Most will have shorter lifespan due to complications of heart failure, kidney disease, death (from anesthesia)
Significant heart issues (hypoplastic left heart syndrome)
Feeding problems from low endurance & frequent hospitalizations
Fetal Alcohol Syndrome (FAS)
Caused by women who drink during pregnancy
Common misconceptions related to FAS
The amt. of alcohol, type of alcohol, or timeline of pregnancy make no difference; alcohol use can always be damaging
Prevalence of FAS
1 in 500 babies born with it
Prevalence of FAE (fetal alcohol effects/exposure)
1 in 100 babies born with disabilities as a result
Clinical Features of FAS
Sx’s range from mild to severe; abnormal facial features, smooth philtrum, small head size, shorter than avg height, low body weight, poor coordination, hyperactive behavior; problems with heart, kidneys, & bones; difficulty paying attention; poor memory; difficulty in school (math especially); learning disabilities; S-L delays; ID or low IQ; poor reasoning & judgment; sleep problems as baby; sucking problems as baby; vision & hearing issues, railroad track ears
Diagnosis of FAS
Facial Features: must have all 3: abnormalities such as smooth philtrum, thin upper lip, wide spaced eyes
Growth issues: @ or below 10th %ile in height and weight
CNS: structural: head size @ or below 10% %ile; significant changes seen on MRIs or CTs
Neurological: probs that can’t be linked to any other cause (poor coordination % muscle control, probs with sucking as baby)
Functional: must have 3: cognitive, executive function, or motor functioning delays, attention probs, hyperactivity, problems with social skills
prenatal alcohol exposure doesn’t have to be confirmed for dx but is helpful
Medical Treatment for FAS
All the care needed for a typical child plus other professionals depending on their specific impairments (pediatrician, PCP, audiologist, immunologist, neurologist, ophthamologist, OT, PT, SLP)
Medication Treatment for FAS
Stimulants, antidepressants, neuroleptics, anti-anxiety pills
Behavior and Education Therapy for FAS
Friendship training, specialized math tutoring, executive functioning training, parent-child interaction therapy, behavior management training
Alternative Approaches for Treating FAS
Biofeedback, auditory training, relaxation therapy, yoga, exercise, acupuncture, energy healing, vitamins, animal assisted therapy
Prognosis for FASDs
No cure Early intervention has been shown to improve child's development Rough road Avg IQ is 65 Lots of learning problems
Down Syndrome
These individuals have 47 chromosomes instead of 46
Prevalence of Down Syndrome
Most common genetic condition 1 in every 691 births 6000 born each year in US >400,000 in US all races & SES
Most Common Clinical Features in Down Syndrome
Flattened facial features, small head, short neck, protruding tongue, upward slanting eyes, unusually shaped ears
Often Present Clinical Features of Down Syndrome
Poor muscle tone; broad, short hands; single crease in palm; relatively short fingers; excessive flexibility
Associated Clinical Features of Down Syndrome
(Significant) heart defects; eye problems; hearing problems; dementia; obesity; leukemia; mild-severe intellectual problems
(reflux due to low tone & more resulting ear infections)
Variations of Down Syndrome
Trisomy 21 (most common)
Mosaic (can have lots of problems & look a lot like Trisomy 21 or relatively few; split occurs later)
Translocation (rearranging of chromosomes)
Trisomy 21 Variation of 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
Treatment of Down Syndrome
No specific treatment
May need surgery due to associated factors
Early intervention services may include: s-l therapy, PT, OT
S-L Issues in Down Syndrome
May not say 1st words until 2 or 3 years old
Understand relationships between words & concepts by 10-12 months but lacking in neurological & motor skills to speak
Many pre-speech & pre-language skills needed first
May also have feeding problems
Pre-Speech and Pre-Language Skills Needed 1st in Down Syndrome
Imitation, turn taking, visual skills, auditory skills, tactile skills, oral motor skills, cognitive skills
Prognosis in Down Syndrome
In 1983, the life expectancy was 25yo, and today is 60yo today
Increased risk of dementia with aging
Live fulfilling lives as long as they have good education programs, home environments, health care, family support, friends, & community
Smith-Magenis Syndrome (SMS)
Chromosome microdeletion/mutation syndrome characterized by a very distinct series of physical, developmental, & behavioral features
Includes varying levels of MR, cranio-facial abnormalities, sleep disturbances, & self-injurious behavior
Prevalence of SMS
1 in 25,000 births; equal in males & females
Thought to be underdiagnosed or misdiagnosed as Williams Syndrome, VCFS, PWS, DS (especially in the newborn period due to infantile hypotonia)
How often to frequent clinical features of SMS occur?
75% of time/pts.
Frequent Otolaryngologic Features of SMS
Middle ear and laryngeal anomalies
Hoarse, deep voice
Frequent Craniofacial/Skeletal Features of SMS
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
Frequent Neurobehavioral Features of SMS
Cognitive impairment/developmental delay Generalized complacency/lethargy (infancy) Infantile hypotonia Sleep disturbance Inverted circadium rhythm of melatonin Stereotypic behaviors
Other Frequent Features of SMS
Self-injurious behaviors Speech delay Hyporeflexia Signs of peripheral neuropathy Oral sensorimotor dysfunction (early childhood)
How often do common clinical features in SMS occur?
between 50% and 75% of the time
What are common clinical features of SMS
Hearing loss Short stature Scoliosis Hyperacusis Tracheobronchial problems Velopharyngeal insufficiency
Clinical Features of SMS occurring less than 50% of the time:
Cardiac defects, thyroid function abnormalities, immune function abnormalities, renal/urinary tract abnormalities, seizures, forearm abnormalities, cleft lip/palate, retinal detachment
Specific Behavioral Issues in SMS
Arm hugging, hand squeezing, hyperactivity and attention problems, prolonged tantrums, sudden moodiness, explosive outbursts
Many children with SMS also diagnosed with:
psychiatric: OCD, ADHD, and mood disorders
Treatment of SMS
Early childhood intervention programs, special education, vocational training later in life, SLP, PT, OT, behavioral therapy, sensory integration therapies
Gastroenterologists, nutritionists
Use of psychotropic medications
Therapeutic management of the sleep disorder
SLP & Smith-Magenis
Early childhood: swallowing, feeding, oral sensorimotor development, oral motor movements
Further development: use of sign language & total communication programs
Prognosis for Smith-Magenis
Early intervention is key
Can expect to accomplish many of the things their “typical” peers do
Need significant amt. of support from families, school, work, & residential service providers to achieve these goals
Appear to have normal life expectancy but no supporting research
Landau-Kleffner
Characterized by sudden or gradual onset of aphasia in an otherwise typically developing child
Develops seizures and lose the abilities they have
Prevalence of Landau-Kleffner
Around 160 cases have been reported between 1957 and 1990 though exact prevalence is difficult to ascertain due to frequent misdiagnosis
Diagnosis of Landau-Kleffner
Diagnosed through presence of infantile acquired aphasia, along with abnormal spike-&-wave brainwaves revealed through an EEG scan indicative of epileptic seizures
Prognosis of Landau-Kleffner
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 & early intervention often leads to better outcomes
Velocardial Facial Syndrome often called…
DiGeorge Syndrome
Velocardial Facial Syndrome
Missing part of chromosome 22 at the q11 region
Unknown cause of deletion but 1 of most frequent chromosome defects in newborns (10% inherited but most “sporadic”)
10% of individuals do not have a deletion in chromosome 22q11 region: other chromosome defects, maternal diabetes, FAS, prenatal exposure to Accutane
Difference b/t DiGeorge & VCFS
DiGeorge is a sequence and not a syndrome; can present with DiGeorge and not have Velocardial Facial Syndrome
DiGeorge is immunological difficulties & complications; VCFS is syndrome and has genetic markers
Can have a child with VCFS or a child with VCFS with DiGeorge Sequence
Prevalence of VCFS
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
VCFS Features
Many of the findings are very common among other multiple anomaly syndromes
Most common/consistent features: behavioral, cognitive, vascular
BD’s and LD’s will not be evident until later in life & may go unrecognized for many years
Impt to recognize the psychiatric manifestations of syndrome at all developemental stages
Cognitive Issues in VCFS
Children perform worse than would be expected by their cognitive level on tasks requiring: shifts of attention, cognitive flexibility, working memory, visuospatial & numerical abilities
When present in VCFS, ID’s are…
usually relatively mild
Cognitive Profile in VCFS
Relative strengths in the areas of reading, spelling, & rote memory
Relative weaknesses in the areas of: visuospatial memory & arithmetic
Cognitive Changes with Development in VCFS
Usually a decline in IQ as they move into adulthood
Common Speech Problems in VCFS
Delayed dev’t of speech & language skills
Hypernasal speech due to velopharyngeal dysfunction
Articulation disorders
Voice disorders & laryngeal anomalies
Language impairment
Pragmatic & social skills difficulties
Possible Concomitant Disorders with VCFS
ADHD, ODD, specific & social phobias, generalized anxiety disorders, separation anxiety disorder, OCD, major depressive disorder & dysthymia, ASD
By late adolescence & early adulthood, picture seems to change as up to 1/3 of pts. w/ it develop psychotic disorders mostly resembling schizophrenia & schizoaffective disorder
Treatment Considerations of VCFS
Specific tx determined based on the following: child’s age, overall health, & medical history; extent of the disease; child’s tolerance for specific medications, procedures, therapies; expectations for the course of the disease; parent opinion or preference
Treatment of VCFS
Cardiologist evaluates heart defects
Plastic surgeon & SLP eval cleft lip &/or palate
Speech & gastrointestinal specialists evaluate feeding difficulties
Immunology evaluations should be performed in all children (In severe cases where immune system function is absent, bone marrow transplantation is required)
Many will benefit from early intervention to help w/ muscle strength, mental stimulation, & speech problems
Prognosis of VCFS
Small minority will not survive 1st yr. of life
Majority will have treatable heart condition & immune system d/o that won’t be significant to interfere w/ survival
Most progress into adulthood w/ normal growth
Angelman Syndrome
Both this & Prader-Willi occur as a result of severe reductions of a gene on chromosome 15
In this, abnormality is on the maternally-derived chromosome 15 while PWS is paternally-derived chromosome 15
Consistent Clinical Features of Angelman Syndrome (AS)
Developmental delay Movement or balance disorder (usually ataxia) Behavioral uniqueness (frequent smiling, easily excitable, hand-flapping movements)
Consistent Speech Features of Angelman Syndrome
Speech impairment (none or minimal use of words)
Frequent Clinical Features of Angelman Syndrome
Delayed, disproportionate head
Growth (microcephaly by 2 years)
Seizures (before 3 years)
Abnormal EEG (in first 2 years)
Associated Clinical Features of Angelman Syndrome
Flat occiput, occipital groove, protruding tongue, tongue thrusting, suck/swallowing disorders, feeding problems, prognathia, wide mouth, wide-spaced teeth, frequent drooling, strabismus, hypopigmented skin, hyperactive LE deep tendon reflexes, uplifted flexed arm position, wide-based gait, increased sensitivity to heat, abnormal sleep-wake cycle/diminished need for sleep, excessive chewing/mouthing behaviors, attraction to/fascination w/ water &/or crinkly items such as paper, abnormal food-related behavior, obesity in older children, scoliosis, constipation
Feeding problems are typically when younger & usually dissipate with age
Treatment of Angelman Syndrome
Consistent behavioral intervention & stimulation to overcome developmental challenges
Behavioral treatment programs shown to benefit abnormal sleep/wake cycles
ABA found to be an effective instructional method
Anticonvulsant meds may be necessary to treat seizures
SLP Tx of Angelman Syndrome
Hand-flapping motions thought to result from inability to communicate effectively
Conversation speech will never develop in highest functioning individuals
Have much better comprehension than expression
Severe seizures may inhibit reaching 1st stages of communication such as establishing eye contact
Most common aim is teaching sign language
Other options can be picture based communication boards or SGDs
Carryover is key: SLP must collaborate with parents & other professionals to help child learn to functionally communicate
Prognosis for Angelman Syndrome
Mobility issues become a more predominant concern as child ages, & is often associated w/ concerns of obesity
If severe ataxia is present, child may lose his/her ability to walk if ambulation isn’t encouraged
Scoliosis may develop in adolescence esp. if pt. is non-ambulatory
Life expectancy not dramatically shortened
Cure for Angelman Syndrome
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 & interests
Demonstrate limited empathy for peers
Prevalence of Asperger’s Syndrome
Not well established
Experts in population studies estimate that 2 in 10,000 kids have it
Prevalence of ASDs in 2007 was 1 in 150 kids; Prevalence of this was estimated to be 1 in 500 kids
Boys are 3 to 4 times more likely to be diagnosed with it than girls
Higher functioning so people may think they’re just different: won’t get services in schools b/c don’t need educational help, just have social issues
Possible causes of Asperger’s Syndrome
Unknown
Possible genetic basis (passed down primarily by father)
Harmful substance consumption during pregnancy
Common in Silicon Valley children (parents have very organized minds)
Common Social Features of Asperger’s Syndrome
Difficulty with peer relationships (possible carryover to parent/family relationships)
Inappropriate attempts to initiate social interactions & make friends
Need for & adherence to structure, routine, rituals, &/or schedules
Socially inappropriate behavior
Failure to understand social cues
Inability to understand & follow social norms
Inability to put self in other’s shoes; empathy problems
Broad range of skills within diagnosis
Nonverbal Communication Features in 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
Sensory Features in Asperger’s
Possible sensitivities to sound, touch, taste, sight, smell, pain, temperature, & food textures
Can by hypo-sensitive to some stimuli & hyper-sensitive to others
S-L features of Asperger’s
No language development delay; possible advanced vocab
Abnormalities in production of speech & language
Pedantic speech
Odd pitch (monopitch), intonation (incorrect or absent), prosody, & rhythm
Difficulties with abstract language (literal interpretations)
Difficulties with social rules of language
Interruptions, irrelevant info, maintaining topic, turn taking; talking/”monologuing”
Usually formal or idiosyncratic ways that aren’t understood
Lack a filter: say whatever comes to mind
Amt. of relevant speech depends on emotional state
Common Activities/Interests in 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 amt. & type of facts child knows, & that may overrule his/her desire for social relationships
Child may also lack interactive play
Treatment of Asperger’s
Focuses on OT/PT for motor coordination & sensory integration, social skills intervention, intervention for anxieties, repetitive & obsessive behaviors, & co-occurring disorders
PT not as much as OT
SLP Treatment of Asperger’s
Initiation of social interactions: use & understanding of verbal & nonverbal communication in various settings
Education of parents & teachers
Prognosis of Asperger’s
Very good prognosis of a fully functional & 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, & difficulties keeping a job
Tend to gravitate toward adults & would rather go work in a structured environment than go to the playground
Autism
Pervasive developmental d/o of unknown etiology with suspected genetic & environmental triggers
Affects brain’s normal development of social & communication skills
Appears in the 1st 3 years
Stereotypical behaviors (self-stimulation) & perseveration of interest on an object are often observed
Unusual response to sensory stimuli
Prevalence of Autism
Estimated that between 1 in 80 & 1 in 240 with an avg of 1 in 110 kids in US have 1
Estimate 6 out of 1000 children will have it
Boys are 4x more likely than girls
Comorbity with ____ is common in ASD:
ID, seizure disorders, anxiety & depression, hyperactivity & OCD
Diagnosis of ASD requires:
Disturbances in each of 3 domains: social relatedness, communication/play, restricted interests & activities
SLP Tx of Autism
communication, social interactions, improved eating (esp. tolerance)
OT/PT Tx of Autism
Coordination & motor control
OT Tx of Autism
sensory integration
MDs & psychiatrists Tx of Autism
meds for related issues
ABA as Tx for Autism
Applied Behavioral Analysis
For younger children
Uses 1 on 1 teaching approach that reinforces the practice of various skills
Goal: to get the child close to normal developmental functioning
TEACCH as Tx for Autism
Treatment and Education of Autistic & Related Communication Handicapped Children
Uses picture schedules & other visual cues that help the child work independently & organize & structure their environments
Do not expect children to achieve typical development with treatment
ESDM as Tx for Autism
Early Start Denver Model
Encompasses a developmental curriculum that defines the skills to be taught at any given time & a set of teaching procedures used to deliver this content
PRT as Tx for Autism
Pivotal Response Training
Child-directed
Goal: to produce positive changes in the pivotal behaviors, leading to improvement in communication skills, play skills, social behaviors & child’s ability to monitor his/her own behavior by focusing on critical or “pivotal” behaviors that affect a wide range of behaviors
DIR as Tx for Autism
Floortime
to help child reach 6 dev’tal milestones that contribute to emotional & intellectual growth: self-regulation & interest in world, , intimacy or a special love for the world of human relations, 2-way communication, complex communication, emotional ideas,emotional thinking
Very consultative model
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 in 10,000 children
Boys affected often don’t survive (can at times)
Characteristics of Rett Syndrome
Usually exhibit normal development for first 6-18 months of life
Symptoms range from mild to severe
Symptoms of Rett Syndrome
Apraxia, breathing problems (worsen w/ stress & usually normal during sleep & abnormal during awake times), decrease in development, arms & legs become floppy (often 1st sign noticed), cognitive decline/learning problems, scoliosis; unsteady gait, may toe walk; seizures; slow head growth beginning at 5-6 months of age; loss of normal sleep patterns; loss of purposeful hand movements; loss of social engagement; ongoing & severe constipation; GERD; poor circulation (bluish arms/legs); severe language d/o
How many types of Rett Syndrome?
3: atypical, classical, provisional
Atypical Rett Syndrome
Begins early—soon after birth or can appear after 18mos; Can appear as late as 3-4 years of age; speech and hand skill problems are mild; in a boy
Classical Rett Syndrome
Meets all criteria listed above
Provisional Rett Syndrome
Some but not all sx appear between 1 and 3
Tx of Rett Syndrome
Tx of specific problems such as GERD Assistance with ADLs PT to minimize contracture Possible g-tube Medications for seizures Most have "stuck" open-mouth position; Seizures will impact safety for swallow
Prognosis of Rett Syndrome
Slow progression of disease into teen years
May exhibit some improvement in teen yrs (breathing may improve, seizures may decrease); regression & delays vary
Life expectancy not well studied: survival into mid 20s likely w/ an avg for girls into mid 40s
Death often related to seizures, aspiration pneumonia, malnutrition
SLP & Rett Syndrome
Likely address language issues thru 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
