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INtellectual Disability down syndrome autism other gentic
Neuro 2
56
Biology
Graduate
02/11/2013

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Cards

Term
What are key features to the definition of Intellectual Disability?
Definition

significant sub-avg intellectual functioning

 

decrease intellectual functioning is accompanied by significant limitations in:

 

adaptive functioning in at least two adaptive skill areas of-->

 

communication, self-care, home living, social/interpersonal skills, use of community resources, self-direction, health and safety, functional academic skills, leisure and work

Term
What is Intellectual disability (ID) prefered to mental retardation?
Definition
yes
Term
Why is it important to label or dx a person with a specific title?
Definition
bc this lable or dx is a passport to services
Term
How is ID typically defined?
Definition

IQ of <70-75 & supports needed in environment and ofr participation

 

 

Developmental disabilities Assistance and Bill of Rights Act

Term
How does the Developmental disabilities Assistance and Bill of Rights Act define an ID?
Definition

Defines ID as something through out life

 

 

Need three areas

 

DO NOT need an IQ test

Term
Are movement dysfunctions often associated with a ID?
Definition
Yes
Term
Is ID more prevalent amoung men or women?
Definition
M
Term
Is the cause of ID well know?
Definition
some are but there are 350 identifiables conditions that have no know cause 30-40% have no known cause
Term
Are ID along a spectrum ?
Definition
Yes
Term
What are the characteristics of an ID?
Definition

Learning a smaller # of things

 

Need increased number of repetitions in order to learn

 

Difficulty generalizing skills & maintaining those skill that are not regularly practiced

 

Slower response times

 

Limited repertoire of responses

 

 

Term
What types of ID are genetic disorders?
Definition

Fragile X syndrome

 

Prader Willi Syndrome

 

Down Syndrome

Term
What are some characteristics of Fragile X Syndrome?
Definition

Hypotonia

 

Poor Coordination

 

Poor motor planning

 

Seizures

 

Hyper-extensible fingers joints

 

Prminent jaw

 

Scoliosis

 

Mitral valve prolapse

 

Large body size

 

Developmental delay

Term
What are characteristics of Prader WIlli Syndrome?
Definition

Severe hypotonia

 

Feeding problems in infancy

 

Rapid weight gain

 

Poor fine and gross motor coordination

 

short stature small hands and feet

 

may be associated with cor pulmonale

Term
What are the characteristics of Down Syndrome?
Definition

Extra Gene on chromosome 21 (Trisomy 21)

 

Most common cuase of ID @ 1/800 or 1000 births

 

Increased incidence in mothers of advanced maternal age

Term
What are the physical characteristics of Down Syndrome?
Definition

Brachycephaly (flat back of the head)

 

Flat contoured face

 

Depressed nasal bridge with smal nasal openings (effects breathing)

 

Narrow, slightly slanted eyelids

 

Small mouth with narrow palate (effects eating)

 

Narrow slightly slanted eyelids

 

Protuberant abdomen (associated with hypotonia)

 

Small hands and feet

 

Single palmar crease ( 50%) aka siminin crease

 

Wide space between first and second toes

Term
What are the neurological characteristics of Down Syndrome?
Definition

Microcephaly (smaller brain)

 

Decreased secondary sulci

 

increased alzheimer tangles with age

 

decreased and delayed myelination

Term
What are the neuromuscular characteristics of Down Syndrome?
Definition

COgnitive impairments

 

motor incoordination

 

hypotonia

 

sensory deficits (vision, hearing ,sensory intergration (could be either seeker or adverter of sensory info)

Term
What are the cardiopulmonary presentations of a child with down syndrome?
Definition

40% change of congenital heart defects such as:

 

Atrioventricular canal defects

 

Ventriculoseptal defects

 

 

shortness of breath and fatigue

 

can't put on wieght or finish bottle

Term
What are the musculoskeletal characteristics of Down Syndrome?
Definition

Linear growth deficits (short fingers or toes)

 

Ligamentous Laxity (Collagen deficit)

Term
In down syndrome Ligamentous laxity can cause what?
Definition

Pes planus

 

Patellar instability

 

Scoliosis (52%) (lack ability to keep the trunk upright

 

Atlanto-axial instability (odontoid ligament hold altal to the dens)

 

Hip subluxation

Term
What are early signs of atlanto-axial dislocation?
Definition

Gait changes, urinary retention, reluctance to move neck, increased DTR

 

 

Term
IF the atlanto-axial joint might be dislocated what be avoded?
Definition

exaggerated neck flexion

 

extension

 

rotation

 

postions or movements that may cause twisting or undue forces

Term
What are the motor delays you would expect if a child has down syndrome?
Definition

 

Roll ~6 months (Normal 4-6 mnths)

 

Sit by 12 months (6-8 mnths)

 

Creep by 24 mnths (8-10 mnths)

 

Walk by 30 mnths (10-18, 12)

 

Walk, Running, Jumping by or 4 or 6 yrs (3-5 yrs)

Term
Children with Down Syndrome go throught the same developmental process as typical developing with what exception?
Definition
Their time line for development is typically slower
Term

Is treadmill training with children w/ down syndrome helpful in aiding them in meetin developmental milestones?

 

what intensity should the treadmill be on?

 

what author researched this?

Definition

yes

 

High intensity turn that baby up. NOT jk low intensity is best! LOl BTW OMgosh

 

Same with posterior walker

 

Ulrich and Lloyd

Term
What are some of the PT interventions that can occur with a patinet who has downs syndrome
Definition

Address gross and fine motor delay

 

Family education on atlanto-axial instability (do not scare them to much)

 

Orthotic management as indicated

 

PRevention and Tx of secondary impairments

 

Encourage general physical fitness

Term

Looper J, orthotic needs in children w/ D.S. found what?

 

In loopers other article they found what?

Definition

SMO decreased cadence and increased cycle time

 

Other article: SMOs appear to have a detrimental effect on overall motor skill development in infants and new walkers

 

SMOs shoudl be postponed until walking independently

Term
WHat are the considerations when choosing an orthotic for a child with D.S.
Definition
Wt Ht, leg length and hypermobility
Term
Tamminga, 2 types of AFO research found what?
Definition
Nothing, need more evidence as to when to introduce the orthosis and what type of orthosis to introduce
Term
Autism Spectru Disorders AKA Pervasive developmental Disorder has what 5 diagnostic options?
Definition

Autistic Disorder

 

Aspergers Disorder

 

Pervasive Developmental Disorder Not Otherwise Specified

 

REtt's Disorder

 

Childhood Disintegrative Disorder

Term
What are the triad of core symptoms in Autismspectrum disorder?
Definition

Social interactions impairment

 

Communication deficits

 

Rigid repetitive behaviors

Term
In order to be dx with Autistic Disorder what criteria have to be met?
Definition

Delays  or abnormal function in at least one of the following areas with onset prior to 3 yoa:

social interaction

 

language as used in social communication

 

symbolic or imaginative play

 

 

The disturbance is not better accounted for by Retts disorder or Childhood disintegratvie disorder

 

Term
What are some characteristics of Asperger's disorder?
Definition

Restricted patterns of behavior, interests and activites (might really like on kind of thing i.e. spinning ball)

 

Impaired social functioning

 

No clinically signigicant delay in language, congintive development, self-help skills or adaptive behaviors

 

High Functioning end of spectrum

Term
Aspergers disorder is on what end of the autism sectrum?
Definition
the high functioning end
Term
Why would a child be classified as Pervasive developmental disorder not otherwise specified?
Definition

For individuals who are on the spectrum but do not fully meet the criteria for another ASD

 

Still have significant challenges in social and language development

 

Can be refered to as sub threshold autism

Term
What are the 3 groups of sub-threshold autism (aka pervasive dveelopmental disorder not otehr wise specified?
Definition

25%: high-functioning with symptoms similar to Aspergers but have lag in language development and have midl cognitive delay

 

25%:  similar to autistic disorder but do not meet all diagnostic criteria

 

50%: meet all criteria for autistic disorder but have stereotypical and reptitve behaviors that are noticeably mild

Term
Why does Rett's disorder occur only in females?
Definition
Bc it is carried only on the X chromosome and therefore M will die
Term
Describe the characteristics of Rett's disorder?
Definition

Only in F

 

Normal development up to 6 months followed by significant regression

 

Loss of previously acquired purposeful hand skills (regression at 6 months)

 

Poor coordinated gait or trunk movements

 

Respiratory irregularities

 

Seizures

 

Progressive

 

Cognitive development does not progress past level of 1 year old

 

Stereotyical hand wringing

 

 

Term

Does childhood disintegrative disorder have stereotypical hand wringing?

 

 

Definition

No

 

This is Rett's Disorder

Term
What are the characteristics of CHIldhood disintegrative disorder?
Definition

Regressive autism

 

Developmental regression in several areas of functioning after at least 2 years of apparently normal development

 

Regression in bowel and bladder control, language, and social skills and regression in play skills motor skills or both

 

Typiclly produce full sentences before onset and regress to no language at all

 

 

Term
What is the Etiology of autisium spectrum disorder?
Definition

Unkown ( hMm)

 

onset appears to be preceded by 2 phases of brain growth abnormailty:

 

Smaller than typical head size at birth

 

Sudden and excessive increase in head size between 1-2 months and 6-14 months of age

 

these two point not sure if they are risk factors or indicators that the child will have autism

 

COuld be:

 

genetics

 

Other disorders

 

Environment

 

Vaccinations

Term
What are screening tools used to decet autism spectrum disorder?
Definition

Developmental Screening Tests (Denver/Aims)

 

M-Chat screening (one of the most widely used):

16-30 months old

 

Assess risk for ASD

 

Childhood Autism Rating Scale (CARS)

 

Autism Spectrum Rating Scale (ASRS)

 

Wing Autistic Disorder Interview Checklist (WADIC)

Term

What is generally the age when autism can be dx?

 

Who is on the team that assess the child?

 

Are there any objective measures?

Definition

2 yoa

 

Pediatrician, psychologist, ST OT, PT

 

 

No objective measures

 

Observation is how it is measured

Term
How early can signs start to appear of autism spectrum disorder?
Definition

 Early as 1 yoa (looking for traid of symptoms communicationg deficits, social interaction deficits, rigid repetitive behaviors)

 

No big smiles or other warm joyful expressions by 6 months or after

 

No back and forth sharing of sounds smiles or other facial expressions by 9 months

 

No babling by 12 months

 

No back and forth gestures such as pointing showing reaching or waving by 12 months

 

NO words by 16 months

 

No meaningful two word pharases (not including imitating or repeating by 24 months

 

Any loss of speech, babbling or social skill at any age

 

 

 

 

Term

Does autism spectrum often accompany other medical conditions and challenges?

 

What can interventions due?

Definition

yes

 

 

Interventions can reduce symptoms and increase skills and abilities (no cure for autism though)

Term
What might be some associated features that come along with autism spectrum disorder?
Definition

Intellectual Disability

 

Uneven cognitive skills

 

Hyperactivity

 

Short Attention span

 

Impulsivity

 

Aggressiveness, self-injurious behavior

 

Abnormalities of mood or affect

 

Abnormalities in eating and sleeping

 

Oversenitivity to sensory stimuli or might need lots of sensory stimuli

Term
What are the PT finding for autism spectrum disorder?
Definition

decreased coordination

 

Postural anomalies

 

rely on proprioceptive input for motor output (Haswell)

 

Increased slowness

 

Difficulty imitatiing and completing actions

 

Reliance on prompting

 

Increased passivity and appratent lack of motivation

Term

What were the PT finding by Parker Foley weiss and Moran?

 

Definition

Decreased core strength

 

Altered speed and pattern on TUG

 

Gait variations

 

Throwing variations

 

Differences in hopping

Term
Ortel KN found what concerning education of children with ASD?
Definition
Aerobic activity prior to classroom activities may improve number of correct responses on aademic tasks
Term
Downey did research and found what?
Definition

Observable trend of impaired motor activity in children with autism: dyspraxia, postural control, gestures and motro imitation, early motor skills

 

PT needs to be a prt of tx team

 

more research in this area

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