Literature DB >> 22802472

Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome?

Ozgun Kaya Kara1, Akmer Mutlu, Mintaze Kerem Gunel, Goknur Haliloglu.   

Abstract

This study aimed to investigate the benefits of physiotherapy programme in a patient with Angelman syndrome (AS) during a follow-up of 3 years. Assessments included: disability level with gross motor function classification systems, gross motor function with gross motor function measurement (GMFM), balance with Berg Balance Scale, motor performance with gross motor performance measurement (GMPM) and tonus assessment with Modified Ashworth Scale. Physiotherapy programme was performed during 36 months, 3 days per week by physical therapist according to Neurodevelopmental Treatment approach. During the 36 months, GMFM increased from 11.46% to 70.82% and GMPM increased from 1.25% to 70.25%. This case report is the first study about the effectiveness of physiotherapy with medium-term follow-up in a child with AS. Physiotherapy results make us happy in this particular patient with 'happy puppet' syndrome.

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Year:  2010        PMID: 22802472      PMCID: PMC3027362          DOI: 10.1136/bcr.06.2010.3081

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  19 in total

1.  Angelman syndrome 2005: updated consensus for diagnostic criteria.

Authors:  Charles A Williams; Arthur L Beaudet; Jill Clayton-Smith; Joan H Knoll; Martin Kyllerman; Laura A Laan; R Ellen Magenis; Ann Moncla; Albert A Schinzel; Jane A Summers; Joseph Wagstaff
Journal:  Am J Med Genet A       Date:  2006-03-01       Impact factor: 2.802

Review 2.  Angelman syndrome (AS, MIM 105830).

Authors:  Griet Van Buggenhout; Jean-Pierre Fryns
Journal:  Eur J Hum Genet       Date:  2009-05-20       Impact factor: 4.246

3.  Cerebral palsy in southern Sweden II. Gross motor function and disabilities.

Authors:  E Nordmark; G Hägglund; J Lagergren
Journal:  Acta Paediatr       Date:  2001-11       Impact factor: 2.299

4.  Development and reliability of a system to classify gross motor function in children with cerebral palsy.

Authors:  R Palisano; P Rosenbaum; S Walter; D Russell; E Wood; B Galuppi
Journal:  Dev Med Child Neurol       Date:  1997-04       Impact factor: 5.449

5.  Using the berg balance scale to distinguish balance abilities in children with cerebral palsy.

Authors:  Gayatri Kembhavi; Johanna Darrah; Joyce Magill-Evans; Joan Loomis
Journal:  Pediatr Phys Ther       Date:  2002       Impact factor: 3.049

6.  Reliability of the Gross Motor Performance Measure.

Authors:  C Gowland; W F Boyce; V Wright; D J Russell; C H Goldsmith; P L Rosenbaum
Journal:  Phys Ther       Date:  1995-07

7.  Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome.

Authors:  Eva Beckung; Suzanne Steffenburg; Mårten Kyllerman
Journal:  Dev Med Child Neurol       Date:  2004-04       Impact factor: 5.449

8.  Epilepsy in Angelman syndrome associated with chromosome 15q deletion.

Authors:  A Matsumoto; T Kumagai; K Miura; S Miyazaki; C Hayakawa; T Yamanaka
Journal:  Epilepsia       Date:  1992 Nov-Dec       Impact factor: 5.864

9.  Motor assessment tools: their concurrent validity in evaluating children with multiple handicaps.

Authors:  S R Harris; M Thompson; L McGrew
Journal:  Arch Phys Med Rehabil       Date:  1983-10       Impact factor: 3.966

10.  Clinical profile of Angelman syndrome at different ages.

Authors:  I M Buntinx; R C Hennekam; O F Brouwer; H Stroink; J Beuten; K Mangelschots; J P Fryns
Journal:  Am J Med Genet       Date:  1995-03-27
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  1 in total

Review 1.  Unmet clinical needs and burden in Angelman syndrome: a review of the literature.

Authors:  Anne C Wheeler; Patricia Sacco; Raquel Cabo
Journal:  Orphanet J Rare Dis       Date:  2017-10-16       Impact factor: 4.123

  1 in total

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