Sped Syndromes

  1. What 2 things must a syndrome disorder have?
    • chromosone/primary genetic marker
    • neurological causes
  2. What are the 5 typical deficit areas of syndrome disorders?
    • facial or physical
    • SLP issues
    • sensory
    • motor
    • academic and learning
  3. What does PDD mean?
    pervasive developmental disorders
  4. What are 5 PDDs?
    • autism
    • aspergers
    • PDD-NOS
    • Rett's
    • childhood disintegrative disorder
  5. What is childhood disintegrative disorder?
    • children develop normally until age 3 or 4
    • then severe loss of social, communication and other skills.
    • Lead screening. A blood test is performed to check for lead poisoning. Lead exposure in children causes damage to the nervous system, developmental delays, hearing loss and behavior problems

    • Doctors can confuse with late-onset autism.
    • Both conditions - normal development followed by significant loss of language, social, play and motor skills.
    • part of PDD/autism spectrum disorders umbrella
    • before the age of 10 VS. younger ages for autism
    • more dramatic loss of skills
    • more likely to have MR
    • far less common than autism.

    • Different at least two of the following areas:
    • Ability to say words or sentences (expressive language)
    • Ability to understand verbal and nonverbal communication (receptive language)
    • Social skills and self-care skills (adaptive behavior)
    • Bowel and bladder control
    • Motor skills (ability to voluntarily move the body in a purposeful way)
    • play skills

    How to test for Childhood Disintegration Disorder?
    • Medical history to find developmental milestone history
    • Neurological exam - look for abnormalities in your child's brain and nervous system.
    • computerized tomography (CT) picture of brain
    • magnetic resonance imaging (MRI) picture of brain
    • electroencephalogram (EEG) brain's electrical activity for presence of seizures.
    • Genetic tests to rule out other syndromes
    • Communication and language tests to assess delays
    • Hearing (audiology) and vision tests
  6. Behavior inventory.
    • Large-motor skills.
    • Fine-motor skills.
    • Sensory skills. This is how the brain and body organize and respond to a variety of everyday sensory
    • Play skills.
    • Self-care skills - include toileting, feeding, dressing and brushing teeth.
    • Cognitive skills - include attention, following directions, thinking, concentration and problem-solving abilities.
  7. What are interventions for Childhood Disintegrative Disorder?
    • behavioral therapy
    • medication to assist with severe behavior/moods

    no cure
  8. What is ataxia?
    lack of muscle coordination
  9. What are the 3 types of ataxia?
    • Cerebellar ataxia
    • Sensory ataxia
    • Vestibular ataxia
  10. What are some causes of ataxia?
    • 1.1 Focal lesions (stroke, brain tumor, MS)
    • 2.2 Exogenous substances (ethanol, some prescription drugs side effects, illegal drugs)
    • 2.3 Vitamin B12 deficiency
    • 2.4 Causes of isolated sensory ataxia (effects use of 1 limb)
    • 2.5 Non-hereditary cerebellar degeneration (hydrocephalitus or altitude sickness)
    • 2.6 Hereditary ataxias
    • 2.7 Arnold-Chiari Malformation (of brain blocking CSF fluid)
  11. What is CP?
    • cerebral palsy
    • controls the motor system
    • effects posture and movement
    • results from damage to the central nervous system (CNS)
    • due to lesions in various parts of the brain
  12. What is MS?
    • multiple sclerosis
    • a degenerative disease
    • effects the nervous system
    • spacisity and paralysis
  13. What is CF?
    • cystic fibrosis
    • pulmonary disease
    • dysfunctional pancreas
    • normal intelligence
    • thickening mucous, excessive sweating, recurrent lung infections
    • results in death
  14. Rett's Syndrome diagnosis
    • Image Upload 2
    • mutation on X chromosome
    • only in girls
    • neurological regression at about 1 year old
    • stereotypical hand movements: wringing and washing at midline
    • it causes MR
    • small head as rest of body grows
    • ataxia = awkward gait
    • apraxia = difficulty in speaking and breathing
    • autistic like behaviors in stages 3 and 4
    • seizures in 85% of girls
  15. What are some interventions for Rett's (and apraxia)?
    • breath control
    • oram motor strength
    • sound production
    • feeding/chewing/swallowing issues
    • AT - augmentative communication device
    • PT, OT, and SLP services
  16. What is apraxia?
    • difficulty in motor planning
    • often a swallowing disorder
  17. What are the 2 types of apraxia?
    • 1. developmental apraxia
    • from birth (Rett's)

    • 2. acquired apraxia
    • mostly in adults, but can occur at any age
    • from lesions on left hemisphere of brain
    • from tumor, stroke, injury or illness to the brain
  18. What are other names for apraxia?
    *Remember this motor planning issue

    • developmental verbal apraxia (DAS)
    • developmental verbal dyspraxia
    • articulatory apraxia
    • childhood apraxia of speech
  19. What is aphasia?
    language disorder effecting written or spoken language

    • results from an injury (think about mom)
    • from lesions to the language-relevant areas of the frontal, temporal and parietal lobes of brain
    • (Often the Broca's area or Wernick's area)
  20. What are 2 general types of aphasia?
    • expressive aphasia
    • receptive aphasia
  21. What are characteristics of Asperger's?
    • neurological disorder
    • more often in males
    • similar characteristics in the father of boys

    • more right hemisphere = non-verbal LD
    • social interests but poor skills!
    • good language, but poor communication
    • good IQ, mixture of learning problems
    • restrictive, repetititive and stereotyped patterns of behavior, interests and activities
    • lacks empathy
    • clumsy, poor coordination

    no significant delays in cognition, self-help, adaptive, or language
  22. What are differences between Asperger's and HFA?
    • HFA is more "LEFT" side brain problems
    • better in music
    • Language LD
    • language is more impaired
    • verbal IQ is more impaired

    • Asperger's
    • not good in music
    • performance IQ is more impaired
    • fine motor issues
    • nonverbal LD
  23. What is Fragile X Syndrome?
    • Image Upload 4the X chromosome has extra genetic material
    • 2nd to Downs for cause of MR
    • cognitive impairement
    • developmental delays
    • behavioral disorders
    • facial characteristics
  24. What are some of the behaviors associated with Fragile X?
    • hyperactivity
    • impulsivity
    • short attention span

    • tantrums
    • self-stim behaviors
    • self-injurous behaviors
    • *late onset of psychosis
  25. What kind of inteventions help with Fragile X?
    • behavior
    • cognitive development
    • SLP - Speech and language
    • OT - sensory integration
    • PT - gross motor development
    • daily living are areas that often need to be addressed for someone with fragile X syndrome.
    • medication is often an important component of the treatment
  26. What is Williams Syndrome?
    • Image Upload 6*think girl on CSI
    • genetic condition
    • congenital
    • chromosome 7 is missing genetic info

    • MR - average IQ of 60
    • LD - mild to severe
    • feeding problems - failure to thrive, low birth weight
    • excessively social - like the girl on CSI
    • behavioral - overactivity, limited attention, districtability
    • mental health - excessive & high anxiety, sleeping disturbances, controlling emotional at times
    • developmental milestone delays - walking, sitting and toileting
    • dental issues and "elfin" face
    • savant musical abilities - have perfect pitch
  27. What are interventions for Williams Syndrome?
    • Keep distractions to a minimum—manage auditory and visual distracters.
    • • Manage sensitivity to sound—provide comfort and explain loud noises.
    • • Encourage positive thinking—teach skills for reframing negative thoughts.
    • • Alleviate anxieties—reassure and aid transition into other activities or topics.
    • • Monitor sadness—be aware that depression can hide under a cheerful exterior.
    • • Provide social skills training—practice interaction with others, taking turns, and how to be appropriately cautious of strangers.
  28. What are Angelman Syndrome characteristics?
    • Image Upload 8(flattening) back of head microcephaly
    • wide-based, stiff-leg gait
    • hypo-pigmentation of the skin (albino like?)
    • seizures
    • visual issues: squinting, nystagmus, strabismus, optic atrophy, poor eye-sight

    • short attention span
    • sleeping problems
    • ataxia (and hand flapping, fine tremor, jerky limb movement)
    • MR
    • oral issues/characteristics
    • ataxia - feeding and swallowing
    • failure to thrive - poor weight gain
    • biting, mouthing, drooling
    • PICA
    • rumination

    • love rough and tumble play (love of water)
    • stubborness
    • happy disposition, sociable
  29. What is pica?
    Pica is a medical disorder characterized by an appetite for substances largely non-nutritive (e.g. metal (coins, etc), clay, coal, soil, feces, chalk, paper, soap, mucus, ash, gum, etc.) or an abnormal appetite for some things that may be considered foods, such as food ingredients (e.g., flour, raw potato, raw rice, starch, ice cubes, salt).[1] In order for these actions to be considered pica, they must persist for more than one month at an age where eating such objects is considered developmentally inappropriate. The condition's name comes from the Latin word for magpie, a bird which is reputed to eat almost anything.[2] Pica is seen in all ages, particularly in pregnant women, small children, and those with developmental disabilities.
  30. What is rumination?
    • literally it means "chewing the cud"
    • in humans it means regujitating food without retching and then chewing it again.
  31. What is Prader - Willi Syndrome?
    • Image Upload 10
    • 15th chromosome
    • insatiable appetite caused by CNS issues
    • obesity and hypotonia
    • OCD
    • impulsivity
    • immature
    • stubborn
    • 70 IQ average
    • small body and hands
    • scoliosis
    • eyes: strabismus and myopia
  32. What kind of interventions are used with Prader Willi Syndrome?
    • Growth hormone treatment and sex hormone treatment
    • mental health for OCD behaviors
    • dieticians
    • OT/PT/SLP

    • Transition to adult care
    • Most people with Prader-Willi syndrome will need specialized care and supervision throughout their lives. Many adults with the disorder live in residential care facilities that enable them to eat healthy diets, live safely, work and enjoy leisure activities.
  33. What are the symptoms of Tourette's Syndrome?
    • higher in males than femailes
    • onset from age 2 - 18
    • onset average is 7 years old

    • involuntary tics: motor and vocal
    • ADD/ADHD (caution about ritalin~!)
    • OCD tendencies
    • 40% LD
    • *significant behavioral emotional and behavioral problems as secondary disorder
  34. What are interventions for Tourette's?
    medication *many side affects!

    • MH professionals
    • support groups with peers
    • depression is high with this group!
  35. What is FAS?
    Image Upload 12Fetal Alcohol Syndrome
  36. 3 major characteristics FAS
    • prenatal and postnatal growth retardation
    • CNS dysfunction
    • craniogacial abnormalities
  37. What are some of the characteristics of an FAS child?
    • microcephaly
    • small and thin body during childhood
    • failure to thrive/low birth weight

    • CNS Dysfunction:
    • ranges from MR to SLD
    • significant behavioral and emotional disturbances
    • irritable baby! can't console crying
    • temper tantrums and moody
    • poor impulse control
    • OCD and ODD behavior
    • no sense of danger, strong willed
  38. What are the craniofacial abnormalities of FAS?
    • ear malfunction of the middle ear
    • protuberant ears, poorly rotated, poorly formed concha
    • microcephaly
    • widely spaced eyes
    • small, upturned nose
    • midface under developed
    • flat phitrum
    • thin upper lipcleft lip and/or palate
  39. What are interventions for FAS?
    • early ID and intervention
    • positive caregiver-child interaction
    • monitor hearing
    • SLP - traditional articulation therapy
    • SLP - voice therapy
    • check for visual
  40. What 4 styles and types of play are there?
    • imaginative
    • varied
    • purposeful
    • goal-directed
Card Set
Sped Syndromes
NPBTS Syndromes & Disabilities