Literature DB >> 9213228

Biophysical bases for delayed and aberrant motor development in young children with achondroplasia.

E S Fowler1, L P Glinski, C A Reiser, V K Horton, R M Pauli.   

Abstract

Achondroplasia, the most common skeletal dysplasia, is characterized by delayed and aberrant motoric development in childhood. Delays and aberrancy are secondary to the anatomical differences inherent in people with achondroplasia. We present a photographic essay documenting biophysical differences, aberrant pre-orthograde movement strategies, and selected adaptive techniques. A parental questionnaire assessed the presence of, predominance, and ages at which various types of pre-orthograde locomotion were observed. Fine and gross motor skills were assessed contemporaneously by use of the Denver Developmental Screening Test in 93 children with achondroplasia and were found to be more delayed than previously reported. Physicians, therapists, early-childhood educators, and parents should recognize that aberrant does not mean maladaptive and that different development is not defective development.

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Year:  1997        PMID: 9213228     DOI: 10.1097/00004703-199706000-00001

Source DB:  PubMed          Journal:  J Dev Behav Pediatr        ISSN: 0196-206X            Impact factor:   2.225


  7 in total

1.  A new twist on old ideas: how sitting reorients crawlers.

Authors:  Kasey C Soska; Scott R Robinson; Karen E Adolph
Journal:  Dev Sci       Date:  2014-07-14

Review 2.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

Review 3.  Motor Development: Embodied, Embedded, Enculturated, and Enabling.

Authors:  Karen E Adolph; Justine E Hoch
Journal:  Annu Rev Psychol       Date:  2018-09-26       Impact factor: 24.137

4.  Natural history of 39 patients with Achondroplasia.

Authors:  Jose Ricardo Magliocco Ceroni; Diogo Cordeiro de Queiroz Soares; Larissa de Cássia Testai; Rachel Sayuri Honjo Kawahira; Guilherme Lopes Yamamoto; Sofia Mizuho Miura Sugayama; Luiz Antonio Nunes de Oliveira; Debora Romeo Bertola; Chong Ae Kim
Journal:  Clinics (Sao Paulo)       Date:  2018-07-02       Impact factor: 2.365

5.  Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia.

Authors:  Penelope J Ireland; Ravi Savarirayan; Tash Pocovi; Tracy Tate; Marie Coussens; Louise Tofts; Craig Munns; Verity Pacey
Journal:  Orphanet J Rare Dis       Date:  2021-01-21       Impact factor: 4.123

Review 6.  Optimal management of complications associated with achondroplasia.

Authors:  Penny J Ireland; Verity Pacey; Andreas Zankl; Priya Edwards; Leanne M Johnston; Ravi Savarirayan
Journal:  Appl Clin Genet       Date:  2014-06-24

7.  Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use.

Authors:  Luitgard Neumeyer; Andrea Merker; Lars Hagenäs
Journal:  Am J Med Genet A       Date:  2020-11-21       Impact factor: 2.578

  7 in total

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