General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report

Abstract

Aims

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive inherited disorder. Individuals with RCDP have a wide range of neurodevelopmental outcomes, but there are limited descriptions of their early motor development before 5 months of age. This study aimed to describe in detail the age-specific spontaneous movements and examine the developmental functioning in an individual with RCDP.

Methods

A female infant (born at 39 weeks’ gestation), diagnosed with RCDP at 3 weeks of age, was assessed at 4 and 16 weeks for general movements (GMs) and concurrent motor repertoire; the Bayley Scales of Infant and Toddler Development–Third Edition (Bayley-III) was also applied at the same ages.

Results

At 4 weeks, the infant showed poor repertoire GMs, with a detailed General Movement Optimality Score of 16/42. At 16 weeks, age-specific fidgety movements were absent, and the movement character was monotonous and stiff; the detailed Motor Optimality Score was severely reduced (7/28). All Bayley-III scores were <2 SD, that is <70 indicating severe developmental delay.

Conclusion

Functional assessments such as the GM assessment and age-specific detailed assessment could be complementary to neuroimaging assessments to predict the neurodevelopmental outcomes in infants with RCDP.

Keywords:

• Concurrent motor repertoire
• fidgety movements
• general movements
• motor development
• rhizomelic chondrodysplasia punctata

Acknowledgements

The authors are grateful to Dr Christa Einspieler from the Medical University Graz, Austria for her comments on an earlier version of the manuscript.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Notes on contributors

Bilge Nur Yardımcı-Lokmanoğlu

Bilge Nur Yardımcı-Lokmanoğlu (PT, MSc) is a Pediatric Physical Therapist and Research Assistant working at the Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey.

Akmer Mutlu

Akmer Mutlu (PT, PhD) is a Professor at the Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey.

Ayşe Livanelioğlu

Ayşe Livanelioğlu (PT, PhD) is a Professor at the Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey.