Genetic Disorders: Therapy
Role in the Schools
KATHLYN L. REED, PHD, OTR, FAOTA, MLIS
ASSOCIATE PROFESSOR, EMERITA
TEXAS WOMAN’S UNIVERSITY – HOUSTON
APRIL, 2015
Objectives
 Review types of genetic disorders seen in the school
system
 Review physical and occupational therapy literature
on treating and managing genetic disorders in the
school age population
 Make suggestions for role of PT and OT in assisting
children with genetic disorders in the school system
Search Strategy
 Search focus: School age children with named genetic
disorders and school related activities
 Databases searched: PubMed, CINAHL, Nursing and
Allied Health, Google, One Search, Education Research,
Academic Search Complete
 Time frame: 2000 forward
 Problems: Most literature on
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early intervention (0-3),
general developmental delay without named disorder,
description of disorder without reference to education, therapy
(non-drug or surgery) or related services, or
adult developmental disabilities.
Terminology
 Karotype: The full set of chromosomes in a
person’s cells
 Genotype: The genetic constitution determined by
the karotype
 Phenotype: The person’s outward appearance; the
biochemical, physiologic, and physical makeup as
determined by the genotype and environmental
factors
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Merck Manual, 2011
Karyotype
 Group A: Chromosomes 1,2,3
 Group B: Chromosomes 4,5
 Group C: Chromosomes 6,7,8,9,10,11.12
 Group D: Chromosomes 13,14,15
 Group E: Chromosomes 16,17,18
 Group F: Chromosomes 19, 20
 Group G: Chromosomes 21,22, 23 (xx or xy)
Karotype: Unsorted Female
Karotype
Karotype in Color
Genetic Inheritance: Recessive
Genes on Chromosomes
Chromosome Designation
 Chromosomes numbered 1-22 plus ‘x’ and ‘y’
 Short arm called ‘p’; Long arm called ‘q’
 Bands are numbered from centrosome to end
(telomere)
 Positions within band indicated by dot and a
number. May also have sequence of letters labeling
proteins
 Example: 9q12.2
Chromosome Mapping
Chromosome Disorder
Chromosome 15
Genetic Designations
Categories of Genetic Disorders
 Chromosomal Abnormalities: extra, missing, or
translocated
 Single-Gene Abnormalities (Mendelian
disorders): error in one gene’s sequence of DNA
nucleotides (cytosine, C; adenine, A; thymine, T &
guanine, G)
 Multifactorial Abnormalities: combination of
gene and environment interactions
 Mitochondrial Abnormalities: defects in the
genes in cell cytoplasm affecting energy production
Subtypes
Chromosomal
Single-Gene
 Autosomal Trisomy
 Autosomal Dominant
 Sex Chromosome
 Autosomal Recessive
Aneuploidy
 Partial Deletion
 Sex-Linked
Chromosomal
Trisomy
Sex Chromosome
 Trisomy 21 (Downs
 Turner syndrome
Syndrome, Mongolism,
Trisomy G)
 Trisomy 18 (Edwards
Syndrome, Trisomy E)
 Trisomy 13 (Patau
Syndrome, Trisomy D)
(female)
 Klinefelter syndrome
(male)
Chromosomal
Partial Deletion
Other
 Angelman Syndrome
 Cornelia de Lange
 Cri-du-chat Syndrome
 Prader-Willi Syndrome
 Williams Syndrome
Syndrome
Single-Gene
Autosomal Dominant
Autosomal Recessive
 Neurofibromatosis
 Cystic fibrosis
Type I
 Osteogenesis
Imperfecta
 Stickler Syndrome
(Smith, Danoff, Jain &
Long, 2007)
 Tuberous Sclerosis
(Mucopolysaccharidosis
I)
 Phenylketonuria
 Spinal muscle atrophy
 Shwachman-Diamond
Syndrome: Weinstein,
2007)
 Hurler syndrome
Single-Gene
Sex-Linked
 Duchenne muscular
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dystrophy
Fragile X syndrome
Hemophilia A
Lesch-Nyham
Syndrome
Rett Syndrome
Multifactorial & Mitochondrial Abnormalities
Multifactorial
abnormalities
Mitochondrial
Abnormalities
 Autism
 Kearns-Sayre disease
 Cerebral palsy
 Leigh Syndrome or
 Cleft lip with or
without cleft palate
 Clubfoot (talipes
equinovarus)
subacute necrotizing
encephalomyopathy
(transmitted by X-linked
recessive and autosomal
recessive inheritance)
 Mitochondrial myopathy
General Problems
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Growth retardation: small stature
Developmental Delay: milestones
Tonicity: Hypertonicity or hypotonicity
Movement disorders: strength, coordination
Hypermobile joints: hyperextension
Contractures and musculoskeletal deformities
Posture and balance disorders: ataxia
Skeletal alignment: scoliosis
Cardiovascular and respiratory disorders: endurance
Gastrointestinal disorders: feeding, digestion
Sensory disorders: registration, modulation
General Intervention
 Structured, organized classroom with boundaries for
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various activities
Individualized cubicles for clothing, educational
materials
Printed, consistent, individualized schedule
Accommodations for sensory modulation
dysfunction
Variety of chairs, work surfaces, floor space
Multisensory options for learning activities
Models of Practice Identified
 Functional training (self-care, mobility) for school
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participation
Sensory integration/sensory modulation
Environmental modification
Assistive technology – low and high
Safety training
Professional education
Down Syndrome
 Named for John Langdon Down, an English
physician who first described condition in 1866
 Three types: trisomy 21 (92%), mosaic (some cells
have 46 chromosomes, others 47; 2-4%), and
translocation (2-4%)
 Incidence approximately 1/800 live births. Incidence
increases with maternal age
Down Syndrome: Fine Motor
 Months
 2-6
 5-8
 10-13
 20-23
 24-27
 41-44
 53-58
Milestone
Batting/Swiping at objects & toys
Purposeful reaching/grasping 1”block
Releasing, transfer from 1 hand to other
Pincer Grasp, pick up small objects
Stacking blocks
Turning pages, holds a crayon
Imitates circular strokes after demo
Imitates vertical & horizontal strokes
 59-62
 Curry, J. (1999) In G. Capone. Down Syndrome Guide
Down Syndrome: Therapy View
Strengths
Weaknesses
 Usually friendly, smiles
 Kind & generous
 Gets along well with
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others
 Good receptive language
 Able to process & use
nonverbal
communication
 Able to follow rules &
routines
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Hypotonia
Hyperflexibiity
Oral motor and feeding problems
Delayed motor development
especially after 3 years: gross & fine
Reduced strength
Perceptual motor deficits
Slow reaction time
Intellectual disability
Seizures
Cardiovascular disorders: mitral
valve
Sensory: visual deficits, hearing
impairment
Increased risk of atlantoaxial or
atlanto-occipital instability
Down Characteristics
Down Syndrome: Karotype
Down Syndrome
Down Syndrome: Intervention
 Follow normal sequence of developmental skills but
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with delay increasing with age
Allow more time and repetitions to learn movements
as task complexity increases
Provide additional time to complete tasks
Use more visual than verbal cues & use visual cues to
support verbal
AT: Use enlarged cursor, slide and tap
Fragile X
 Syndrome first labeled in 1991.
 Abnormality of DNA in an X chromosome
 Most common inherited cause of intellectual
disability
 Incidence: 1/4000 males and 1/8000 females
 Prevalence: 2-6 per 10,000 births
 Males for severely affected than females
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Merck Manual & Meyer, 2007
Fragile X Syndrome: Therapy View
Strengths
Weaknesses
 Verbal skills
 Hyperextensibility
 Cardiovascular: Mitral value
 Simultaneous
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processing
Long-term memory
Gestalt closure tasks
Good imitation skills
Visual perceptual skills
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Schwarte, 2008
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prolapse
Features of autism:
perseveration, poor eye contact,
society anxiety
Poor sensory modulation
Nonverbal skills
Visual spatial relations
Sequential processing
Short term & working memory
Math, arithmetic
Fragile X Syndrome: Intervention
 Calming environment: reduce sounds, use headphones,
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reduce lighting, use natural light, provide space, reduce
accidental contact
Calming activities: deep pressure, brushing, quiet space
(hidey hole), computer game, listening to music
Sensory modulation: cotton clothing; blow toys, whistles,
straws for oral motor;
Posture: alternate seating, add cushions, chair with arms,
bolster chair
Movement: play, adapted floor games, dance,
Use visual images (pictures, objects) paired with verbal
Use experiential learning (practical, physical)
Fragile X Syndrome
Fragile X
Fragile X Syndrome
Fragile X Syndrome
Fragile X: Intervention
Rett Syndrome
 First described by Andreas Rett, an Austrian
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physician in 1966.
An X-linked dominant neurodevelopmental disorder
Caused by mutation in the X-linked MECPS gene
which encode methyl-CpG-binding protein 2
Seen in all ethnic groups
Incident 1 in 10,000 to 1 in 23,000 girls
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NORD p. 584
Rett Syndrome
 Development after initial 6 months period of normal
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development
Deceleration of head growth
Severe intellectual disability
Impaired social interaction
Loss of speech and purposeful use of hands: (results in
hand-wringing stereotypy)
Seizures
Autistic features
Ataxia
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Merck Manual, 2011
Rett Syndrome: Stages
 Stage 1
6-18 mo.
 Stage 2
1-3 yrs
 Stage 3
2-10 yrs
 Stage 4
10 yrs +
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Source: Rettsyndrome.org
Disinterest in play activity;
Hypotonia
Rapid regression, Irritability,
Autistic-like symptoms
Seizures, Intellectual
disability, Hand-wringing,
Hyperventilation, Bruxism
(teeth grinding), Aerophagia
(swallowing air)
Scoliosis, muscle atrophy,
rigidity, improved eye contact
Rett Syndrome: Therapy View
Weaknesses
Strengths
 Look for sparing of
gross and fine motor
skills, sensory
registration
 Hearing may be intact
 Receptive language
better than expressive
Dyspraxia
Muscle atrophy & Contractures
Loss of gross & fine motor skills
Skeletal alignment & scoliosis
Dystonia : varying muscle tension
Loss of self-care skills
Loss of purposeful hand skills
Repeated hand-wringing, clapping
Loss of oral motor feeding skills
Risk of pressure sores
Loss of communication skills
Lack of sensory registration &
modulation: visual, tactile
 Seizures
 Inc. anxiety may dec. motivation
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Rett Syndrome: Intervention
 AT for
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Feeding: modified eating utensils
Clothing: larger size, no/few fasteners,
Computing: large switch or mouse
Classroom activities: IPad
Mobility: walker, wheelchair
 Modified techniques: hand over hand
 Modified equipment: eye-gaze device
 Safety training: safe transfers
 Monitor splints: effectiveness, skin condition
 Maintenance activities for cardiopulmonary fitness: large
arm movements, standing, blowing
Rett Syndrome
Rett Syndrome
Rett Syndrome: Pattern of Inheritance
Rett Syndrome: Hands
Rett Syndrome: Lower Extremities
Rett Syndrome: Intervention
Williams Syndrome
 First described b J.C.P. Williams in 1961.
 Alternate names: Williams-Beuren syndrome;
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Hypercalcemia syndrome, Elfin syndrome
Caused by deletion of 17 genes on Chromosome
7q11.12.
Deletion arises spontaneously in most cases
Prevalence is about 1 per 20,000 births
Males and females affected equally
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NORD, 2003, p. 270
Williams Syndrome: Problems in Child
 Difficulty with feeding and demonstrate poor weight gain
 Cardiovascular disease: supravalvaortic stenosis and/or
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pulmonary stenosis, renal artery stenosis
Hypotonia (central); hypertonia (peripheral)
Hypertension over time
Hypercalciuria: Watch Vitamin D intake
Spinal curvature: lordosis
Joint hypermobility & contractures: Radioulna limited ROM
Strabismus: hyperopia
Cognitive “scatter” Often musical savant. Language and
memory good, poor visual spatial skills, limited abstract
reasoning and short attention span
NORD, Cunniff
Williams Syndrome: Therapy View
Strengths
Weaknesses
 Learns best through
 Visual spatial & visual perceptual
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auditory sense especially
rhyme, rhythm, or
cadence
Sociable (surface)
Participates with others
Enjoys learning
Few behavioral problems
Acute sense of hearing
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skills
Auditory hypersensitivity
Fine motor & visual motor (poor
handwriting)
Abstract reasoning (poor concept of
time, understanding social rules)
Expressive & receptive language
Struggles with attention & focus
especially in noisy environments
Gross motor delay: hop, skip, jump,
catch-throw ball
Difficulty modulating emotions to
maintain friendships
Williams Syndrome: Intervention
 Consider creating a quiet environment; ‘sound reduction’
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workstation in classroom; use of headphones, sound barriers
& absorbers
Alternates for fasteners: add pulls, slip-on shoes, velcro
fasteners, elastic waist bands, pull-over garments
Computer skills: enlarge icons, drop & drag, word prediction
Classroom/school independence & safety: endurance, walking
speed, ability to carry objects while walking
Classroom learning: posture, schedule, workstation
organization, small group activities
Playground/gym: expect delay in gross motor milestones
Avoid all sources of Vitamin D including sunlight/sunshine.
Use sun scream
Williams Syndrome
Williams Syndrome
Williams Syndrome
Williams Syndrome: Intervention
Take Home Messages
 Learning preferences differ among the disorders
 Learning preferences are often “stronger” or more
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pronounced than in normal individuals
Environmental changes are useful to manage sensory
sensitives and need for sensory modulation
AT: low and high tech often helpful in facilitating
learning activities and mobility
Mobility assistance often needed for Rett Syndrome
Teacher education important
Parents often can fill in missing information but may
need assistance in locating additional resources
Selected References: General
 Batshaw, M.L., Gropman, A., & Lanpher, B. (2013). Genetics and
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developmental disabilities. In M.L. Batshaw, N.J. Roizen, & G.R.
Lotrecchiano (Eds.). Children with disabilities (7th ed., pp. 3-24).
Baltimore: Paul H Brookes.
Bellamy, S.G., & Shen, E.Y. C. (2013). Genetic disorders; A pediatric
perspective. In D.A., G.U. Burton, R.T. Lazaro, & M.L. Roller (Eds.).
Umpred’s neurological rehabilitation (6th ed, pp. 345-378). St. Louis:
Elsevier
McEwen, I.R., Meiser, M.J. & Hansen, L.H. (2012. Children with motor
and intellectual disabilities. In: S.K. Campbell, R.J. Palisano, & M.N.
Orlin (Eds.). Physical therapy for children (4th ed., pp. 539-576). St.
Louis: Elsevier.
National Organization for Rate Disorders. (2003), NORD guide to rare
disorders. Philadelphia: Lippincott Williams & Wilkins
Porter, R. (Ed.). (2011). Merck manual of diagnosis and therapy, 19th
ed. Whitehouse Station: NJ: Merck, Sharp & Dohme.
Smith, M., Danoff, J.V., Jain, M. & Long, T.M. (2007). Genetic disorders:
Implications for allied health professionals: Two case studies. Internet
Journal of Allied Health Sciences and Practice, 5(6), 1-14. (Level V,
overview, case report)
Selected References: Down Syndrome
 Bruni, M. (2006). Fine motor skills for children with Down syndrome, 2nd ed.,
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Bethesda, MD: Woodbine House.
Daunhauer, L.A. & Fidler, D.J. (2011). The Down syndrome behavioral
phenotype: Implications fo practice and research in occupational therapy.
Occupational Therapy in Health Care, 25(1), 7-25.(Level V, overview)
Gibbons, B.G., Williams, K.E. & Riegel, K.E. (2007). Reducing tube feeds and
tongue thrust combining an oral-motor and behavioral approach to feeding.
American Journal of Occupational Therapy, 61(4), 384-391. (Level V, case
report)
Mahoney, G., Robinson, C. & Fewell, R.R. (2003). The effects of early motor
intervention on children with Down syndrome or cerebral palsy: A field-based
study. Journal of Developmental & Behavioral Pediatrics, 22, 153-162. (Level
III)
Shaw, R.I., Garcia, M., Thorn, M., Farley, C.A. & Flanagan, G. (2003). Treatment
of feeding disorders in children with Down syndrome. Clinical Child Psychology
and Psychiatry, 8(1), 105-117. (Level V, case report)
Uyanik, M., Bumin, G. & Kayihan, H. (2003). Comparison of different therapy
approaches in children with Down syndrome. Pediatrics International, 45, 6873. (Level V, literature review)
Winders, P. C. (Date). Gross motor skills for children with Down syndrome: a
guide for parent s and professionals. Bethesda, MD: Woodbine House.
Selected References: Fragile X Syndrome
 Baker, K., & Donelly. M. (2001). The social experiences of children with disability
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and the influence of environment: a framework for intervention. Disability &
Society, 16(7), 71-85
Baranek, G.T., Chin, Y.H., Hess, L.M.G. et al. (2002). Sensory processing corelates
of occupational performance in children with fragile x syndrome: Preliminary
findings. American Journal of Occupational Therapy, 56(5), 538-546.
Green, D. (2004). Occupational therapy and sensory integrative therapy for
individuals with fragile X syndrome. In D. Dew-Hughes (Ed.). Educating children
with Fragile X syndrome (pp. 115-123}. London: RoutledgeFalmer
Martin, G.E. Ausderau, K.K. Raspa, M. et al. (2013). Therapy service use among
individuals with fragile x syndrome: Findings from a US parent survey. Journal of
Intellectual Disability Research, 57(9), 837-89. (Level V, survey)
Meyer, G.A. (2007). X-linked syndromes causing intellectual disabilities. In M.L.
Batshaw, L. Pellegrino, & N.J. Roizen (Eds.). Children with disabilities (6th ed., pp.
275-283). Baltimore: Paul H Brooks.
Schwarte, A.R. (2008). Fragile x syndrome. School Psychology Quarterly, 23(2),
290-300.
Zingerevich, C., Greiss-Hess, L. Lemons-Chitwood, K. et al. (2009). Motor abilities
of children diagnoses with fragile x syndrome with and without autism. Journal of
Intellectual Disabilities Research, 53(1), 11-18. (Level V, assessment)
Selccted References: Rett Syndrome
 Arnsten-Russell, S. (2006). Intentional switch activation to achieve
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functional outcomes for girls with Rett syndrome. OT Practice, (May 8).
(Level V, case studies)
Downs, J., Bergman, A., Carter, I (2009). Guidelines for management of
scoliosis in Rett syndrome patients based on expert consensus and
clinical evidence. Spine, 34(17), E607-617.
Loriviere, J. (2007). Exploring options for access: Enhancing
communication and learning for girls with Rett syndrome. Technology
Special Interest Section Quarterly, 17(4), 1-4.
Overfordt, L., Engerstrom, I.W., & Eliasson, A.C. (2009). Guided eating
or eeding: Three girls with Rett syndrome. Scandinavian Journal of
Occupational Therapy, 16(1), 33-39. (Level V, case studies)
Pizzamiglio, M.P., Nasti, M., Piccardi, L. et al (2008). Sensory-Motor
rehabilitation in Rett syndrome: A case study. Focus on Autism and
Other Developmental Disabilities, 23(1), 49-62. (Level V, case study)
Rett Syndrome Research Foundation (2006). Therapies and education in
Rett syndrome. www.rsrf.org/parent_resources/.6.html
Wales, L., Charman, T. & Mount, R.H. (2004). An analogue assessment
of repetitive hand behaviours in girls and young women with Rett
syndrome. Journal of Intellectual Disability Research, 48(7), 672-678.
Selected References: Williams Syndrome
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Cunniff, C. et al. (2001). Health care supervision for children with
Williams syndrome. Pediatrics, 107(15, 1192Cunningham, E. & Pegg, R. (n.d.). Curriculum access for the child with
Williams syndrome. Online. Williams-syndrome.org
Fidler, D.J., Hodapp, R.M., & Dykens, E.M. (2002). Behavioral
phenotypes and special education: Parent report of education issues for
children with Down syndrome, Prader-Willi syndrome , and Williams
syndrome. Journal of Special Education, 36(2), 80-88.
John, A.E., & Mervis, C.B. (2010). Sensory modulation impairments in
children with Williams syndrome. American Journal of Medical
Genetic, Part C. , Seminars in Medical Genetics 154(2), 266-276.
Pegg, R. (2013). Occupational therapy in a school setting. Online at
william-syndrome.org/
Riley, D.M., James. E., & Rodgers, J. (2013). Brief report: Exploring the
relationship between sensory processing and repetitive behaviours in
Williams syndrome. Journal of Autism and Developmental Disabilities,
43, 473-478.
Terrilli, C. (2013). Physical therapy in a school setting. Online at williamsyndrome.org/
Online Resources
 Genetic & Rare Diseases (GARD)
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rarediseases.info.nih.gov/
International Rett Syndrome Association IIRSA)
www.rettsyndrome.org/
National Down Syndrome Society (NDSS):
www.ndss.org/
National Fragile X Foundation INFXF):
www.fragilex.org/
Williams Syndrome Association (WSA): williamssyndrome.org/
Down & Williams Syndrome