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Preschool Language Intervention > Syndromes and Disorders > Flashcards

Syndromes and Disorders Flashcards

1
Q

Prader-Willi Syndrome Definition

A

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

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2
Q

Prevalence of Prader-Willi Syndrome

A

1 out of 10,000 to 15,000 live births diagnosed with it
Impacts more than 400,000 worldwide
Boys and girls affected equally

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3
Q

Clinical Features of Prader-Willi Syndrome in Infancy

A 
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
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4
Q

FTT

A

failure to thrive

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5
Q

Clinical Features of Prader-Willi Syndrome in Childhood

A

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)

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6
Q

Specific Speech and Language Deficits of Prader-Willi Syndrome

A

Speech sound errors (attributed somewhat to hypotonicity)
Hypernasality (hypotonia: inadequate closure)
Flat intonation
Imprecise articulation
Slow speaking related
Abnormal pitch

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7
Q

Treatment & Care of Prader-Willi Syndrome

A

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

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8
Q

Speech Considerations in Prader-Willi Syndrome

A

SLP will address speech/language issues in child with this

SLP will address feeding concerns in infancy

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9
Q

Prognosis for Prader-Willi Syndrome

A

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

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10
Q

Dandy Walker Malformation

A

Characterized by a hypoplastic or missing cerebellar vermis, enlarged 4th ventricle, & cyst of the posterior fossa

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11
Q

Prevalence of Dandy Walker Malformation

A

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

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12
Q

Prognosis in Dandy Walker Malformation

A

Overall, considered to be good & hopeful for those that survive
Best factor is absence of other congenital defects

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13
Q

Associated Problems of DW Malformation

A

Hydrocephalus, seizures, polycystic kidneys, cardiac anomalies, limb & facial abnormalities, headaches from hydrocephalus
Symptoms of increased intracranial pressure: lethargy, emesis, irritability

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14
Q

Frequent associated symptoms of DW Malformation

A

Other CNS abnormalities/disorders may co-occur, decreased intelligence, unsteady gait, nystagmus, lack of coordination

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15
Q

Occasional associated symptoms of DW Malformation

A

Vision problems, hearing problems, cleft lip/palate

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16
Q

Treatment & Management of DW Malformation

A

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.

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17
Q

Most common anticonvulsant used in tx of DW malformation

A

phenobarbital

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18
Q

Polycystic kidneys

A

numerous fluid-filled pockets/cysts resulting in massive enlargement of kidneys

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19
Q

What is Fragile X Syndrome?

A

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

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20
Q

Fragile X Inheritance

A

Complicated; FMR1 mutation involves involves a region of repeating DNA bases on the gene

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21
Q

FMR1 gene with 55-199 repeats is said to have…

A

a premutation; premutations passed down in an egg may or may not develop into a full mutation

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22
Q

FMR1 gene with 200 or more repeats is said to have…

A

a full mutation

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23
Q

Prevalence of Fragile X Syndrome

A

1 of the most common genetic disorders

1 in 4000 boys; 1 in 6000 girls

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24
Q

Name Fragile X comes from:

A

broken or fragile appearance of the X chromosome

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25
Q

Clinical Features of Fragile X

A

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

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26
Q

Treatment/Management of Fragile X

A

No specific treatment; Tx as indicated for any accompanying health issues; OT for sensory integration

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27
Q

ST and Fragile X

A

May be needed for problems with poor intelligibility, pragmatics, grammar, oral motor difficulties, & phonological problems

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28
Q

Prognosis of Fragile X

A

Dependent on the degree of ID and severity of other associated conditions; about a 1/3 will also have autism

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29
Q

Neonatal Abstinence Syndrome Prenatal

A

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)

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30
Q

Neonatal Abstinence Syndrome Postnatal

A

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)

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31
Q

Epidemiology of NAS

A

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

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32
Q

Signs & Symptoms of NAS typically begin after

A

48-72 hours after birth, may take up to 10 days (sometimes it’s after 2 to 4 wks)

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33
Q

Signs & Symptoms of NAS depend on:

A

the drug(s) the mother used, how long she used the drug(s), the amount, & whether the baby was premature or full term

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34
Q

Clinical Features of NAS

A

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

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35
Q

Common Long-Term Effects of NAS for Boys

A

increased risk for ADHD and behavioral disorders

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36
Q

Common Long-Term Effects of NAS for Girls

A

increased risk for mood disorders

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37
Q

Common Long-Term Effects of NAs for both boys and girls

A

increased risk of mental retardation and learning impairments

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38
Q

NAS Scoring System

A

may help determine when to start, titrate, or terminate therapy (Finnegan, Lipsitz, Modified scales per institution)

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39
Q

Management of NAS

A

Swaddling, rocking the infant, reducing noise and lights, breastfeeding unless contraindicated
TEAM: SLP, OT, PT, nursing, MD, mental health professionals, social workers

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40
Q

Drug Management of NAS

A

Opioids, phenobarbital, methadone, morphine

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41
Q

Opioids are used for ______ in NAS treatment

A

opioid and polydrug withdrawal

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42
Q

Phenobarbital used for ______ in NAS treatment

A

polydrug withdrawal (most common)

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43
Q

Methadone used for _____ in NAS treatment

A

opioid withdrawal

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44
Q

Morphine used for ______ in NAS treatment

A

used for polydrug withdrawal; helps control seizures

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45
Q

Prognosis for NAS

A

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

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46
Q

Williams Syndrome

A

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

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47
Q

Prevalence of Williams Syndrome

A

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

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48
Q

Williams Syndrome full name

A

Williams-Beuren Syndrome

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49
Q

Similarities among pts. with Drs. Williams and Beuren

A

Cardiovascular disease, Learning disabilities & developmental delays, facial features

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50
Q

Clinical Features of Williams Syndrome

A

small upturned nose, wide mouth, long philtrum, full lip, small chin, puffiness around eyes, drooping cheeks, dental abnormalities (slightly small, widely spaced teeth), starburst

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51
Q

Starburst in Williams Syndrome

A

white lacy pattern in green & blue eyes; can have it typically as well (about 10% of rest of population)

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52
Q

Consistent Associated Problems in Williams Syndrome

A

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

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53
Q

Frequent Associated Problems in Williams Syndrome

A

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)

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54
Q

Hypercalcemia: recurrent problems

A

abdominal sx’s: nausea, constipation, pain, poor appetite, vomiting, frequent thirst & urination

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55
Q

Other associated problems in Williams Syndrome

A

HBP, irritability/colic-like, modified diet, FTT, low muscle tone, distractability, fine motor/spatial impairment (impacts feeding, schoolwork, writing)

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56
Q

Williams Syndrome is also sometimes called..

A

Elfin Syndrome
Cocktail Party Syndrome
-both inappropriate

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57
Q

Elfin Syndrome

A

Inappropriate name for Williams Syndrome

Adult stature is slightly smaller than avg & facial features become more apparent with age

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58
Q

Cocktail Party Syndrome

A

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

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59
Q

Treatment of Williams Syndrome (WS)

A

Modified diet, monitor calcium levels
Heart surgery
PT (for joint issues, motor developmental delays, low muscle tone)

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60
Q

ST and WS

A

Feeding as infants, social skills intervention, cognition, receptive language, expressive vocabulary +ability to tell narratives+, therapy most effective when accessing strengths

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61
Q

Prognosis for WS

A

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

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62
Q

Fetal Alcohol Syndrome (FAS)

A

Caused by women who drink during pregnancy

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63
Q

Common misconceptions related to FAS

A

The amt. of alcohol, type of alcohol, or timeline of pregnancy make no difference; alcohol use can always be damaging

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64
Q

Prevalence of FAS

A

1 in 500 babies born with it

65
Q

Prevalence of FAE (fetal alcohol effects/exposure)

A

1 in 100 babies born with disabilities as a result

66
Q

Clinical Features of FAS

A

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

67
Q

Diagnosis of FAS

A

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

68
Q

Medical Treatment for FAS

A

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)

69
Q

Medication Treatment for FAS

A

Stimulants, antidepressants, neuroleptics, anti-anxiety pills

70
Q

Behavior and Education Therapy for FAS

A

Friendship training, specialized math tutoring, executive functioning training, parent-child interaction therapy, behavior management training

71
Q

Alternative Approaches for Treating FAS

A

Biofeedback, auditory training, relaxation therapy, yoga, exercise, acupuncture, energy healing, vitamins, animal assisted therapy

72
Q

Prognosis for FASDs

A 
No cure
Early intervention has been shown to improve child's development 
Rough road
Avg IQ is 65
Lots of learning problems
73
Q

Down Syndrome

A

These individuals have 47 chromosomes instead of 46

74
Q

Prevalence of Down Syndrome

A 
Most common genetic condition
1 in every 691 births
6000 born each year in US
>400,000 in US
all races & SES
75
Q

Most Common Clinical Features in Down Syndrome

A

Flattened facial features, small head, short neck, protruding tongue, upward slanting eyes, unusually shaped ears

76
Q

Often Present Clinical Features of Down Syndrome

A

Poor muscle tone; broad, short hands; single crease in palm; relatively short fingers; excessive flexibility

77
Q

Associated Clinical Features of Down Syndrome

A

(Significant) heart defects; eye problems; hearing problems; dementia; obesity; leukemia; mild-severe intellectual problems
(reflux due to low tone & more resulting ear infections)

78
Q

Variations of Down Syndrome

A

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)

79
Q

Trisomy 21 Variation of Down Syndrome Diagnosis

A

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

80
Q

Treatment of Down Syndrome

A

No specific treatment
May need surgery due to associated factors
Early intervention services may include: s-l therapy, PT, OT

81
Q

S-L Issues in Down Syndrome

A

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

82
Q

Pre-Speech and Pre-Language Skills Needed 1st in Down Syndrome

A

Imitation, turn taking, visual skills, auditory skills, tactile skills, oral motor skills, cognitive skills

83
Q

Prognosis in Down Syndrome

A

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

84
Q

Smith-Magenis Syndrome (SMS)

A

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

85
Q

Prevalence of SMS

A

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)

86
Q

How often to frequent clinical features of SMS occur?

A

75% of time/pts.

87
Q

Frequent Otolaryngologic Features of SMS

A

Middle ear and laryngeal anomalies

Hoarse, deep voice

88
Q

Frequent Craniofacial/Skeletal Features of SMS

A 
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
89
Q

Frequent Neurobehavioral Features of SMS

A 
Cognitive impairment/developmental delay
Generalized complacency/lethargy (infancy)
Infantile hypotonia
Sleep disturbance
Inverted circadium rhythm of melatonin
Stereotypic behaviors
90
Q

Other Frequent Features of SMS

A 
Self-injurious behaviors
Speech delay
Hyporeflexia
Signs of peripheral neuropathy
Oral sensorimotor dysfunction (early childhood)
91
Q

How often do common clinical features in SMS occur?

A

between 50% and 75% of the time

92
Q

What are common clinical features of SMS

A 
Hearing loss
Short stature
Scoliosis
Hyperacusis
Tracheobronchial problems
Velopharyngeal insufficiency
93
Q

Clinical Features of SMS occurring less than 50% of the time:

A

Cardiac defects, thyroid function abnormalities, immune function abnormalities, renal/urinary tract abnormalities, seizures, forearm abnormalities, cleft lip/palate, retinal detachment

94
Q

Specific Behavioral Issues in SMS

A

Arm hugging, hand squeezing, hyperactivity and attention problems, prolonged tantrums, sudden moodiness, explosive outbursts

95
Q

Many children with SMS also diagnosed with:

A

psychiatric: OCD, ADHD, and mood disorders

96
Q

Treatment of SMS

A

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

97
Q

SLP & Smith-Magenis

A

Early childhood: swallowing, feeding, oral sensorimotor development, oral motor movements
Further development: use of sign language & total communication programs

98
Q

Prognosis for Smith-Magenis

A

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

99
Q

Landau-Kleffner

A

Characterized by sudden or gradual onset of aphasia in an otherwise typically developing child
Develops seizures and lose the abilities they have

100
Q

Prevalence of Landau-Kleffner

A

Around 160 cases have been reported between 1957 and 1990 though exact prevalence is difficult to ascertain due to frequent misdiagnosis

101
Q

Diagnosis of Landau-Kleffner

A

Diagnosed through presence of infantile acquired aphasia, along with abnormal spike-&-wave brainwaves revealed through an EEG scan indicative of epileptic seizures

102
Q

Prognosis of Landau-Kleffner

A

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

103
Q

Velocardial Facial Syndrome often called…

A

DiGeorge Syndrome

104
Q

Velocardial Facial Syndrome

A

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

105
Q

Difference b/t DiGeorge & VCFS

A

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

106
Q

Prevalence of VCFS

A

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

107
Q

VCFS Features

A

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

108
Q

Cognitive Issues in VCFS

A

Children perform worse than would be expected by their cognitive level on tasks requiring: shifts of attention, cognitive flexibility, working memory, visuospatial & numerical abilities

109
Q

When present in VCFS, ID’s are…

A

usually relatively mild

110
Q

Cognitive Profile in VCFS

A

Relative strengths in the areas of reading, spelling, & rote memory
Relative weaknesses in the areas of: visuospatial memory & arithmetic

111
Q

Cognitive Changes with Development in VCFS

A

Usually a decline in IQ as they move into adulthood

112
Q

Common Speech Problems in VCFS

A

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

113
Q

Possible Concomitant Disorders with VCFS

A

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

114
Q

Treatment Considerations of VCFS

A

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

115
Q

Treatment of VCFS

A

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

116
Q

Prognosis of VCFS

A

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

117
Q

Angelman Syndrome

A

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

118
Q

Consistent Clinical Features of Angelman Syndrome (AS)

A 
Developmental delay
Movement or balance disorder (usually ataxia)
Behavioral uniqueness (frequent smiling, easily excitable, hand-flapping movements)
119
Q

Consistent Speech Features of Angelman Syndrome

A

Speech impairment (none or minimal use of words)

120
Q

Frequent Clinical Features of Angelman Syndrome

A

Delayed, disproportionate head
Growth (microcephaly by 2 years)
Seizures (before 3 years)
Abnormal EEG (in first 2 years)

121
Q

Associated Clinical Features of Angelman Syndrome

A

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

122
Q

Treatment of Angelman Syndrome

A

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

123
Q

SLP Tx of Angelman Syndrome

A

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

124
Q

Prognosis for Angelman Syndrome

A

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

125
Q

Cure for Angelman Syndrome

A

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

126
Q

Asperger’s Syndrome

A

An autism spectrum disorder
Characterized by difficulty with social interaction, repetitive patterns of behavior & interests
Demonstrate limited empathy for peers

127
Q

Prevalence of Asperger’s Syndrome

A

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

128
Q

Possible causes of Asperger’s Syndrome

A

Unknown
Possible genetic basis (passed down primarily by father)
Harmful substance consumption during pregnancy
Common in Silicon Valley children (parents have very organized minds)

129
Q

Common Social Features of Asperger’s Syndrome

A

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

130
Q

Nonverbal Communication Features in Asperger’s

A

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

131
Q

Sensory Features in Asperger’s

A

Possible sensitivities to sound, touch, taste, sight, smell, pain, temperature, & food textures
Can by hypo-sensitive to some stimuli & hyper-sensitive to others

132
Q

S-L features of Asperger’s

A

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

133
Q

Common Activities/Interests in Asperger’s

A

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

134
Q

Treatment of Asperger’s

A

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

135
Q

SLP Treatment of Asperger’s

A

Initiation of social interactions: use & understanding of verbal & nonverbal communication in various settings
Education of parents & teachers

136
Q

Prognosis of Asperger’s

A

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

137
Q

Autism

A

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

138
Q

Prevalence of Autism

A

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

139
Q

Comorbity with ____ is common in ASD:

A

ID, seizure disorders, anxiety & depression, hyperactivity & OCD

140
Q

Diagnosis of ASD requires:

A

Disturbances in each of 3 domains: social relatedness, communication/play, restricted interests & activities

141
Q

SLP Tx of Autism

A

communication, social interactions, improved eating (esp. tolerance)

142
Q

OT/PT Tx of Autism

A

Coordination & motor control

143
Q

OT Tx of Autism

A

sensory integration

144
Q

MDs & psychiatrists Tx of Autism

A

meds for related issues

145
Q

ABA as Tx for Autism

A

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

146
Q

TEACCH as Tx for Autism

A

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

147
Q

ESDM as Tx for Autism

A

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

148
Q

PRT as Tx for Autism

A

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

149
Q

DIR as Tx for Autism

A

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

150
Q

Rett Syndrome

A

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)

151
Q

Characteristics of Rett Syndrome

A

Usually exhibit normal development for first 6-18 months of life
Symptoms range from mild to severe

152
Q

Symptoms of Rett Syndrome

A

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

153
Q

How many types of Rett Syndrome?

A

3: atypical, classical, provisional

154
Q

Atypical Rett Syndrome

A

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

155
Q

Classical Rett Syndrome

A

Meets all criteria listed above

156
Q

Provisional Rett Syndrome

A

Some but not all sx appear between 1 and 3

157
Q

Tx of Rett Syndrome

A 
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
158
Q

Prognosis of Rett Syndrome

A

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

159
Q

SLP & Rett Syndrome

A

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

Preschool Language Intervention (3 decks)

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