Early Intervention in a Child with Aymé-Gripp Syndrome: A Case Report

Authors

Liang-Jun Ou-Yang, Department of Physical Medicine and Rehabilitation, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan;
Pei-Hsuan Huang, Department of Physical Medicine and Rehabilitation, Taoyuan Chang Gung Memorial Hospital, Taoyuan, Taiwan;
Hsiang-Ning Chang, Department of Physical Medicine and Rehabilitation, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan
Chih-Chi Chen, Department of Physical Medicine and Rehabilitation, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan;
Chia-Ling Chen, Graduate Institute of Early Intervention, College of Medicine, Chang Gung University, Taoyuan, Taiwan;
Chia-Ying Chung, Department of Physical Medicine and Rehabilitation. Taipei Chang Gung Memorial Hospital, Taipei, Taiwan;Follow

Abstract

Aymé-Gripp syndrome is an autosomal dominant inherited disease. The de novo pathogenic variant of the MAF gene, located at 16q23.2, is considered the primary common cause of this disease. The pathogenic variant causes interference with lens and eye development and embryonic development. Patients with Aymé-Gripp syndrome typically present with bilateral cataracts, bilateral congenital sensorineural hearing loss, and Down syndrome-like facial features. Dual sensory impairment is observed in these patients. Delayed developmental milestones in the aspect of gross motor, fine motor, speech, and language, cognitive function, and social interaction can be detected early in life. Here we presented a 4-year-old male diagnosed with Aymé-Gripp syndrome. This case report provides an important vivid image of children with rare inherited diseases, multiple comorbidities, sensory impariment, and developmental disabilities. Furthermore, the physiatrist could collaborate with the therapists, special education teachers, and other specialists, providing a comprehensive intervention and individualized rehabilitation program to prevent the patients from deterioration or enhance their function and quality of life.

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Recommended Citation

Ou-Yang, Liang-Jun; Huang, Pei-Hsuan; Chang, Hsiang-Ning; Chen, Chih-Chi; Chen, Chia-Ling; and Chung, Chia-Ying (2024) "Early Intervention in a Child with Aymé-Gripp Syndrome: A Case Report," Rehabilitation Practice and Science: Vol. 2024: Iss. 1, Article 4.
DOI: https://doi.org/10.6315/3005-3846.2232
Available at: https://rps.researchcommons.org/journal/vol2024/iss1/4