Lecture 2 Flashcards
1
Q
Prader-Willi Syndrome
A
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.
2
Q
Prevalence: PWS
A
1 out of 10,000 to 15,000 live births are diagnosed with Prader-Willi
Impacts more than 400,000 worldwide
Boys and girls are impacted equally
3
Q
Clinical Features PWS in Infancy
A
Hypotonia Distinct facial features: almond-shaped eyes Thin upper lip/downturned Head narrowing at temples FTT (failure to thrive) Lack of eye coordination Poor responsiveness
Very difficult to get these children to feed, they are obese as children becasue they are insatiable, delayed motor development, hypogonadism (produce little to no hormones)
3
Q
Clinical Feauture PWS in Childhood
A
Excessive food craving Weight gain (especially in trunk region) Hypogonadism Poor growth: small stature hands/feet Learning disabilities (mild to moderate) Delayed motor development Speech problems Behavior problems Sleep disorders (Apnea)
4
Q
Specific Speech and Language Deficits in PWS
A
Speech sound errors Hypernasality Flat intonation Imprecise articulation Slow speaking rate Abnormal pitch
5
Q
Treatment and Care for PWS
A
Nutrition and diet modification Growth hormone treatment Sex hormone treatment Therapies: Physical Therapy, Speech Therapy, Occupational Therapy, Developmental Therapy, Nutrition, Mental Health Therapy Environmental modification
OT reccommends swimming
6
Q
Speech (SLP) role in PWS
A
SLP will address speech and language issues in the child with PWS
SLP will address feeding concerns in infancy
6
Q
Prognosis for PWS
A
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
7
Q
Dandy Walker
A
DW malformation is characterized by a hypoplastic or missing cerebellar vermis, enlarged 4th ventricle, and cyst of the posterior fossa
8
Q
Prevalence/Prognosis DWS
A
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
9
Q
Associated Problems in DWS
A
Hydrocephalus Seizures Polycystic Kidneys Cardiac Anomalies Limb and facial abnormalities Symptoms of increased intracranial pressure Lethargy, emesis, irritability
10
Q
Associated Symptoms in DWS
A
Frequent Other CNS abnormalities/disorders may co-occur Decreased intelligence Unsteady gait Nystagmus Lack of coordination Occasional Vision Problems Hearing Problems Cleft lip/palate
11
Q
Treatment/Management of DWS
A
Early treatment included removing the membranes of the posterior fossa (high mortality rates)
Surgical management of DWM currently includes shunting of the 4th ventricle to drain excess CSF buildup (caused by cyst formation)
Anticonvulsive therapy or medication is commonly needed
Variable symptoms are treated as needed by (including PT, OT, ST)
11
Q
Fragile X
A
Fragile X Syndrome is an X-linked condition caused by a mutation on the FMR1 gene on the X chromosome. It is usually inherited from a mother who is a carrier of the condition.
Fragile X inheritance is complicated. The FMR1 mutation involves a region of repeating DNA bases on the gene. A FMR1 gene with 55-199 repeats is said to have a “premutation” and a gene with 200 or more repeats is said to have a “full mutation.” Premutations passed on in an egg may or may not develop into full mutations.
12
Q
Prevalence of Fragile X
A
Fragile X is one of the most common genetic disorders
1 in 4000 males
2 in 6000 females
13
Q
Clinical Features of Fragile X
A
Delay in crawling, walking, or rotating Hand clapping or hand biting Hyperactive or impulsive behavior Anxiety and unstable mood Intellectual disability Speech and Language Delay Tendency to avoid eye contact
13
Q
Clinical Feautures of Fragile X 2
A
Autistic Behavior Sensory Integration Problems Gastro-esophageal Reflux Recurrent Otitis Media Seizures affect about 25% of people with Fragile X Flat Feet Flexible Joints
14
Q
Clinical Features of Fragile X 3
A
Low muscle tone Large body size High arched palate Scoliosis Large testicles Large forehead
15
Q
Clinical Features of Fragile X 4
A
Large ears
Prominent jaw
Long face
Soft skin
16
Q
Treatment/Management of Fragile X
A
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
16
Q
Prognosis for Fragile X
A
Prognosis is dependent on the degree of intellectual disability and the severity of the other associated conditions
17
Q
NAS (neonatal Abstinence Syndrome) PRENATAL
A
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
18
Q
NAS 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. They subsequently go through withdrawal when the drugs are withdrawn
19
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)
NAS is more commonly seen in urban areas
20
Clinical Features of NAS
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
20
NAS and prenatal toxemia
can be prenatally toxemic, but not necessarily have NAS
woven stretchy blankets are better for NAS, proprioceptive feedback
tremors
21
Dandy Walker considerations
cysts are numerous and fluid-filled, resulting in massive enlargement of kidneys
phenobarbital (common anticonvulsive)
drug treatment can inhibit therapy/development
22
Fragile X considerations for therapy
eye contact is very overstimulating to them, do not want to do this in therapy initially. They need sensory/movement/vestibular input to organize visual stimulation.
1/3 will also have autism
23
Clinical Features of NAS list
```
Blotchy skin coloring (mottling)
Diarrhea
Excessive sucking
Fever
Hyperactive reflexes
Increased muscle tone
Irritability
```
24
Common Long-term Effects of NAS
Boys – increased risk for ADHD and behavioral disorders
Girls – increased risk for mood disorders
Both – increased risk for mental retardation and learning impairments (Weissman, et. Al, 1999)
25
NAS Scoring System
May help determine when to start, titrate, or terminate therapy
Finnegan – Most common
Lipsitz
Modified scales per institution
26
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
```
27
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
28
Prognosis for NAS
Long-term outcomes are highly dependent on whether or not the mother continues to use addictive and/or illicit drugs
Environmental support/factors impact prognosis as well
29
William's 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.
30
Prevalence of William's Syndrome
1 in every 10,000 births
Equal male to female ration
Proportionate across race
An estimated 20,000-30,000 individuals in the U.S. have WS
Unlikely for other family members to have WS but if the person who has WS plans to have children, the child has a 50% chance of also having the diagnosis
31
Clinical Features of Williams Syndrome
```
Small upturned nose
Wide mouth
Long philtrum
Full lip
Small chin
Puffiness around the eyes
Drooping cheeks
```
31
More Clinical Features of William's Syndrome
Dental abnormalities (slightly small, widely spaced teeth)
| Starburst (lacy white pattern in children with green and blue eyes)
32
Associated Problems in William's Syndrome (Consistent)
```
Cardiovascular issues
Supravalvular Aortic Stenosis (Narrowing of the blood vessels)
Low birth weight
Feeding problems
Hyperacusis
Developmental Delays
```
33
More associated problems in William's Syndrome (Consistent)
Mild to moderate learning disabilities
Overly friendly
Lack of social inhibition
Strength in expressive skills
34
Associated Problems in William's Syndrome (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
35
Associated Problems in William's Syndrome
```
High blood pressure
Irritability/colic-like
Modified diet
FTT
Low muscle tone
Distractibility
Fine motor / spatial impairment
```
36
Other Associated features of William's Syndrome:
Elfin
Cocktail Party
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.
37
Treatment of William's Syndrome
Modified diet, monitor calcium level
Heart surgery
PT (joint issues, delays, low muscle tone)
ST (feeding as infants, social skills intervention, cognition, receptive language, expressive vocabulary +, ability to tell narratives +) Therapy most effective when accessing strengths
37
Prognosis for William's Syndrome
```
No cure
Usually unable to live independently
Most people with WS will have a shorter lifespan due to complications of:
Heart failure
Kidney disease
Death (from anesthesia)
```
38
Fetal Alcohol Syndrome
Caused by women who drink during their pregnancy
Common misconceptions: The amount or alcohol, type of alcohol, or timeline of pregnancy make no difference, alcohol use can always be damaging
39
Prevalence of FAs
1 in 500 babies are born with FAS
| 1 in 100 babies have disabilities resulting from prenatal alcohol exposure (FAE)
40
Clinical Features of FAS
```
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
Difficulty feeding as infants
```
41
Treatment for FAS
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
42
Facial Features of FAS
```
Epicanthal folds in inner medial corners of eyes
Flat nasal bridge
Small palpebral fissures under eyes
Railroad track ears
Upturned nose
Smooth philtrum
Thin upper lip
```
43
Prognosis for FAS
No cure for FASDs
| Early intervention has been shown to improve the child’s development
44
Down Syndrome
Individuals with Down syndrome have 47 chromosomes instead of the usual 46
45
Prevalence of Down Syndrome
```
Most common genetic condition
1 in every 691 births
6,000 born each year in the U.S.
> 400,000 in the U.S.
all races and SES
```
46
Most common clinical features of Down
```
Flattened facial features
Small head
Short neck
Protruding tongue
Upward Slanting eyes
Unusually shaped ears
```
47
Often present clinical features of Down
```
Poor muscle tone
Broad, short hands
Single crease in palm
Relatively short fingers
Excessive flexibility
```
48
Associated clinical features of Down
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Heart defects
Eye problems
Hearing problems
Dementia
Obesity
Leukemia
Mild-severe Intellectual
```
49
Noted associated problems in Down
tend to have higher incidence of reflux, secondary to heart problems
more reflux tends to correlate with more ear infections (otitis media)
Trisomy 21 most common genetic variation
49
Treatment of Down
No specific treatment
May need surgery due to associated factors
Early intervention services should include:
Speech and language therapy
Physical therapy
Occupational therapy
50
Speech Issues in Down
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
51
Prognosis for Down
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.
52
Smith-Magenis
SMS is a chromosome microdeletion/mutation syndrome that is characterized by a very distinct series of physical, developmental and behavioral features
Includes varying levels of mental retardation, cranio-facial abnormalities, sleep disturbances and self-injurious behaviors
53
Prevalence of SMS
SMS occurs 1 in 25,000 births; equal in male and females
Thought to be under diagnosed or misdiagnosed as :Williams syndrome, VCFS, PWS, DS (especially in the newborn period due to infantile hypotonia)
53
Frequent Clinical Features (75%) of SMS
```
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
```
54
Frequent Clinical Features of SMS
NEURO/BEHAVIORAL:
Cognitive impairment/ developmental delay
Generalized complacency/ lethargy (infancy)
infantile hypotonia
Sleep disturbance
Inverted circadian rhythm of melatonin
Stereotypic behaviors
55
Frequent clinical features of SMS
```
Self-injurious behaviors
Speech delay
Hyporeflexia
Signs of peripheral neuropathy
Oral sensorimotor dysfunction (early childhood)
```
56
Common Clinical Features (>50%) of SMS
```
COMON FEATURES >50%
Hearing loss
Short stature
Scoliosis
Hyperacusis
Tracheobronchial problems
Velopharyngeal insufficiency
```
57
Clinical Features (<50%) of SMS
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Cardiac defects
Thyroid function abnormalities
Immune function abnormalities
Renal/urinary tract abnormalities
Seizures
Forearm abnormalities
Cleft lip/palate
Retinal detachment
```
58
Specific Behavioral Issues in SMS
* Arm Hugging
* Hand Squeezing
* Hyperactivity and attention problems
* Prolonged Tantrums
* Sudden moodiness
* Explosive Outbursts
58
Treatment of SMS
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
58
SLP and Smith-Magenis
Early childhood: swallowing, feeding, oral sensorimotor development, oral motor movements
Further development: use of sign language and total communication programs
58
Prognosis for SMS
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
59
Laundau-Kleffner
Characterized by the sudden or gradual onset of aphasia in an otherwise typically developing child
60
Prevalence of L-K
Around 160 cases have been reported between 1957-1990, though exact prevalence is difficult to ascertain due to frequent misdiagnosis
61
Prognosis of L-K
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.
62
Velocardial Facial Syndrome
Missing a small part of chromosome 22 at the q11 region.
Unknown cause of deletion, but this is one of the most frequent chromosome defects in newborns.
10% inherited
Most “sporadic”
10% of individuals with VCFS do not have a deletion in the chromosome 22q11 region.
Other chromosome defects
Maternal diabetes
Fetal alcohol syndrome
Prenatal exposure to Accutane®
63
VCFS/Digeorge
digeorge is a sequence, not a syndrome. can present with digeorge sequence but not have VCFS.
VCFS is a syndrome and it has genetic markers
63
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
64
Features of VCFS
Many of the findings in VCFS are very common among other multiple anomaly syndromes
Most common/consistent features:
behavioral
cognitive
vascular
BDs & LDs will not be evident until later in life and may go unrecognized for many years.
Important to recognize the psychiatric manifestations of this syndrome at all developmental stages
65
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 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
66
Common speech problems in VCFS
Delayed development of speech and language skills
Hypernasal speech due to velopharyngeal dysfunction
Articulation disorders
Voice disorders and laryngeal anomalies
Language impairment
Pragmatic and social skills difficulties
67
Possible Concomitant Disorders in VCFS
```
ADHD
Oppositional defiant disorder
Specific and social phobias
Generalized anxiety disorder
Separation anxiety disorder
Obsessive-compulsive disorder
Major depressive disorder and dysthymia
Autism spectrum
By late adolescence and early adulthood, this picture seems to change as up 1/3 of the patients with VCFS develop psychotic disorders mostly resembling schizophrenia and schizoaffective disorder”
```
68
Treatment of VCFS
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
69
Prognosis for VCFS
Small minority will not survive the first year of life.
Majority will have a treatable heart condition and immune system disorder that will not be significant enough to interfere with survival.
Most progress into adulthood with normal growth.
69
Angelman and the difference between PWS
Both Angelman Syndrome and PraderWilli Syndrome occur as a result of severe reductions of a gene on chromosome 15. What’s the difference? In AS, the abnormality is on the maternally derived chromosome 15, and for PWS, the abnormality is on the paternallyderived chromosome 15.
70
Consistent Clinical Features of Angelman
Developmental delay
Movement or balance disorder (usually ataxia)
Behavioral uniqueness (frequent smiling, easily excitable, handflapping movements)
Speech impairment (none or minimal use of words)
71
Frequent Clinical Features of AS
Delayed, disproportionate head
growth (microcephaly by 2 yrs.)
Seizures (before 3 yrs.)
Abnormal EEG (in first 2 yrs.)
72
Associated Clinical Features of Angelman
```
Flat occiput
Occipital groove
Protruding tongue
Tongue thrusting; suck/swallowing disorders
Feeding problems
Prognathia
```
73
Associated clinical features of Angelman's 2
```
Wide mouth
Widespaced teeth
Frequent drooling
Strabismus
Hypopigmented skin
Hyperactive LE deep tendon reflexes
Uplifted, flexed arm position
Widebased gait
```
74
Associated clinical features of Angelman's 3
```
Increased sensitivity to heat
Abnormal sleepwake cycles/ diminished need for sleep
Excessive chewing/mouthing behaviors
Attraction to/fascination with water and/or crinkly items such as paper
Abnormal food related behavior
Obesity (in older children)
Scoliosis
Constipation
```
74
Diagnosis of Angelman's
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.
74
Treatment for AS
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
75
SLP Treatment of AS
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
76
Prognosis for AS
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.
77
Cure for AS
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
78
Asperger’s syndrome
An autism spectrum disorder
¨ Characterized by difficulty with social interaction, repetitive patterns of behavior and interests
¨ Demonstrate limited empathy for peers
78
Prevalence of Asperger's
The incidence of Asperger syndrome is not well established.
However, experts in population studies estimate that 2 in 10,000 children have the disorder.
The prevalence of Autism Spectrum Disorders in 2007 was estimated at 1 in 150 children.
The prevalence of Asperger syndrome has been estimated by studies to be 1 in 500 children.
Boys are 3 to 4 times more likely to be diagnosed with AS than girls.
78
Possible Causes of Asperger's
Unknown
¨ Possible genetic basis (passed down primarily from father)
¨ Harmful substance consumption during pregnancy
¨ Common in Silicon Valley children (parents have very organized minds)
79
Common Social Features of Asperger's
Difficulties with peer relationships (Possible carry-over to parent and family relationships)
Inappropriate attempts to initiate social interactions and make friends
Need for and adherence to structure, routine, rituals, and/or schedules
Socially inappropriate behavior
Failure to understand social cues
Inability to understand and follow social norms
Inability to “put himself in the other person’s shoes”
80
Nonverbal Communication Features of Asperger's
Limited use of gestures
Inability to use or understand body language
Awkward or inappropriate use of non-verbal communication
Flat affect or inappropriate facial expressions
Inability to read the facial expressions of others
Lack of eye contact
81
Sensory Features of Asperger's
Possible sensitivities to sound, touch, taste, sight, smell, pain, temperature, and food textures
Can be hypo-sensitive to some stimuli and hyper-sensitive to others.
82
Speech & Language Features of Asperger's
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
82
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 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.
83
Treatment for Asperger's
Focuses on:
OT/PT for motor coordination and sensory integration
Social skills intervention
Intervention for anxieties, repetitive and
obsessive behaviors, and co-occurring disorders
84
SLP treatment for Asperger's
Initiation of social interactions
Use and understanding of verbal and nonverbal communication in various settings
Education of parents and teachers
85
Prognosis for Asperger's
Very good prognosis of a fully functional and independent life similar to that of a neurotypical individual especially with social skills intervention
Difficulties in social interactions may persist throughout life which may result in bullying, problems in romantic relationships, depression, loneliness, and difficulties keeping a job.
85
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
86
Prevalence of Autism
It is estimated that between 1 in 80 and 1 in 240 with an average of 1 in 110 children in the United States have an ASD.
Estimate 6 out of 1000 children will have autism
Boys are 4x more likely than girls
Comorbidity is common with:
Intellectual disability
Seizure disorders
Anxiety, depression
Hyperactivity, obsessive compulsive disorder
87
Diagnosis of Autism
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.
88
Specific Assessment Tools for Autism
Checklist for Autism in Toddlers (CHAT) or modified checklist (M-CHAT)
Autism Screening Questionnaire.
Autism Diagnostic Interview - Revised (ADI-R)
Autism Diagnostic Observation Schedule (ADOS)
Childhood Autism rating Scale (CARS)
Gilliam Autism Rating Scale
Pervasive Developmental Disorders Screening Test - Stage 3
89
Treatment of Autism 1
* SLP- communication, social interactions, improved eating (esp. tolerance)
* OT/PT- coordination, motor control
* OT- sensory integration
* MDs and psychiatrists- medicines for related
90
Treatment of Autism 2
Applied Behavioral Analysis (ABA) Skinner- 1930s
This program is for younger children with an autism spectrum disorder. Uses a one-on-one teaching approach that reinforces the practice of various skills. The goal is to get the child close to normal developmental functioning.
Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH) Erick Schopler- 1970s
It uses picture schedules and other visual cues that help the child work independently and organize and structure their environments. Do not expect children to achieve typical development with treatment.
91
Treatment of Autism 3
Early Start Denver Model (ESDM) Rogers & Dawson- 2000s
encompasses a developmental curriculum that defines the skills to be taught at any given time and a set of teaching procedures used to deliver this content.
Pivotal Response Training (PRT) Koegel & Koegel-1970s
Child directed, goal of PRT is to produce positive changes in the pivotal behaviors, leading to improvement in communication skills, play skills, social behaviors and the child's ability to monitor his or her own behavior. by focusing on critical, or "pivotal," behaviors that affect a wide range of behaviors
92
Treatment for Autism 4
Floortime (DIR) Greenspan-1980s
is to help the child reach six developmental milestones that contribute to emotional and intellectual growth: self-regulation and interest in the world, intimacy or a special love for the world of human relations, two-way communication, complex communication, emotional ideas, emotional thinking
