Pediatric Genetic Conditions

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1 Pediatric Genetic Conditions HEIDI M NELSON, PT, DPT, PCS DIRECTOR OF CLINICAL EDUCATION & ASSISTANT PROFESSOR BRIAR CLIFF UNIVERSITY DOCTOR OF PHYSICAL THERAPY*

2 Basics & Characteristics Prader-Willi Syndrome Most common cause of syndromic obesity (Irizarry et al, 2016) Growth hormone therapy is an alternative treatment shown to improve outcomes (Irizarry et al, 2016) Angelman Syndrome Characterized by developmental delay, ataxia, happy demeanor and excessive laughter (Williams, Driscoll, Dagli, 2010) Chromosome 18q Epilepsy is frequent and common characteristic of children who have chromosome 18 abnormalities (Verrotti et al, 2015)

3 Prader-Willi syndrome (PWS) (Irizarry et al, 2016) Affects chromosome 15q11.2 to 13 with unknown genetic mechanism Clinical characteristics vary with age Hypotonia Failure to thrive in infancy Excessive weight gain Obsession with good Short stature Cognitive impairment resulting in learning delays

4 Treatments for PWS (Irizarry et al, 2016) Growth hormone therapy Physical therapy Occupational therapy Speech therapy Psychiatric therapy

5 Angleman Syndrome (Williams, Driscoll, Dagli, 2010) Affects chromosome 15q11.2-q13 with variable phenotype Similar mutation to PWS Microcephaly and seizures are common Clinical features do not occur until after age 1 year Challenging diagnosis to make because of delayed clinical features Speech impairment or absence of speech is key in diagnosis Cardiac abnormalities can be co-morbid

6 Treatment for Angelman Syndrome Physical Therapy (Williams, Driscoll, Dagli, 2010) Occupational Therapy (Williams, Driscoll, Dagli, 2010) Speech Therapy (Williams, Driscoll, Dagli, 2010) Management of gastrointestinal dysfunction (Williams, Driscoll, Dagli, 2010) Medication for seizure management (Williams, Driscoll, Dagli, 2010) Assistive Technology (Radstaake et al, 2012)

7 Chromosome 18 Abnormalities (Cody & Hale, 2015) Affects 18p and 18q genes with variable presentations Translocations, ring, and trisomy are all genetic mechanisms that impact chromosome 18 High risk of seizures in all types Malformations of the skull Clubfeet Eye defects with visual abnormalities Cardiac abnormalities can be present Kidney dysfunction is common

8 Treatment for Chromosome 18 Abnormalities (Verrotti et al, 2015) Medication for seizure management Hemispherectomy for seizure management Medication for gastrointesting dysfunction Speech therapy Physical therapy Occupational therapy

9 Parent s views on genetic conditions Based on: Thomson, A., Glasson, E., Roberts, P., & Bittles, A. (2016). Over time it just becomes easier : Parents of people with Angleman syndrome and Prader-Willi syndrome speak about their career role. Disability and Rehabilitation, 25, 1-8. Families report high levels of stress associated with caring for a child with a rare genetic condition Parents report that not one specific coping strategy is successful in caring for a child with a rare genetic condition Community support and timely information about the diagnosis and treatment were most helpful in coping with the condition

10 References Cody, J.D. & Hale, D.E. (2015). Making chromosome abnormalities treatable conditions. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 169(3), Eiholzer U., Schlumpf, M., Nordmann, Y., & L allemand, D. (2001). Early manifestations of Prader- Willi syndrome: Influence of growth hormone. Journal of Pediatric Endocrinology and Metabolism, 14, Finucane, B.M., Lusk, L., Arkilo, D., Chamberlain, S., Devinsky, O., Dindot, S., Cook, E.H. Jr. (2016). 15q duplication syndrome and related disorders. Seattle, WA: Gene Reviews. Irizarry, K.A., Miller, M., Freemark, M., & Haqq, A.M. (2016). Prader-Willi syndrome: Genetics, metabolomics, hormonal function, and new approaches to therapy. Advances in Pediatrics, 63(1),

11 References Radstaake, M., Didden, R., Oliver, C., Allen, D., & Curfs, L.M. (2012). Functional analysis and functional communication training in individuals with Angelman syndrome. Developmental Neurorehabilitation, 15(2), Thomson, A., Glasson, E., Roberts, P., & Bittles, A. (2016). Over time it just becomes easier : Parents of people with Angleman syndrome and Prader-Willi syndrome speak about their career role. Disability and Rehabilitation, 25, 1-8. Verrotti, A., Carelli, A., di Genova, L., & Striano, P. (2015). Epilepsy and chromosome 18 abnormalities: A review. Seizure European Journal of Epilepsy, 32, Williams, C.A., Driscoll, D.J., Dagli, A.I. (2010). Clinical and genetic aspects of Angelman syndrome. Genetics in Medicine, 12(7),

12 Disclaimer *Effective April 29, 2015, the Doctor of Physical Therapy Program at Briar Cliff University has been granted Candidate for Accreditation status by the Commission on Accreditation in Physical Therapy Education (1111 North Fairfax Street, Alexandria, VA, 22314; phone: ; Candidate for Accreditation is a pre-accreditation status of affiliation with the Commission on Accreditation in Physical Therapy Education that indicates that the program is progressing toward accreditation and may matriculate students in technical/professional courses. Candidate for Accreditation is not an accreditation status nor does it assure eventual accreditation.