# Early Motor Development and Rehabilitation Outcomes in Apert Syndrome: Gross Motor Function Measures—Case Report

**Authors:** Lorena Oreščanin, Zrinka Biloglav, Ivana Škrlec

PMC · DOI: 10.3390/pathophysiology33010023 · Pathophysiology · 2026-03-16

## TL;DR

This case report shows how early and intensive rehabilitation improved motor skills in a child with Apert syndrome.

## Contribution

The study demonstrates the effectiveness of a multidisciplinary rehabilitation approach in improving motor function in a child with Apert syndrome.

## Key findings

- The child's GMFM score improved from 29.00% to 68.68% over eight months of rehabilitation.
- The most significant progress was observed in sitting, crawling, kneeling, and standing.
- Early and intensive rehabilitation combined with family involvement showed positive outcomes.

## Abstract

Introduction: Apert syndrome is a rare genetic disorder characterized by craniofacial anomalies and limb malformations, often accompanied by neurodevelopmental abnormalities that can considerably affect motor development. Aim: The aim of this study was to document the progress in motor development of a girl with Apert syndrome, with an emphasis on assessing functional needs and evaluating the effects of a multidisciplinary rehabilitation approach. Materials and Methods: Motor functions were evaluated using the Gross Motor Function Measure (GMFM-88) at 16 and 24 months of age. Rehabilitation consisted of an intensive physiotherapy program, Dynamic Movement Intervention (DMI), delivered in monthly cycles over eight months. The therapeutic approach focused on developing postural control, transitional positions, and functional mobility while stimulating sensorimotor integration and neuroplasticity. Results: The initial GMFM score was 29.00%, and the final assessment score reached 68.68%, representing a relative improvement of 136.83%. The most considerable progress was observed in sitting, crawling, and kneeling, with initial improvements in standing. Despite the limitations of this study, the results suggest a positive effect of early, intensive, and individualized rehabilitation combined with active family involvement. Conclusions: The outcomes highlight the importance of early assessment, continuous monitoring of motor development, and a multidisciplinary rehabilitation approach in children with Apert syndrome, with the GMFM serving as a valuable tool for evaluating gross motor function.

## Linked entities

- **Diseases:** Apert syndrome (MONDO:0007041)

## Full-text entities

- **Genes:** MECP2 (methyl-CpG binding protein 2) [NCBI Gene 4204] {aka AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX}, FGFR3 (fibroblast growth factor receptor 3) [NCBI Gene 2261] {aka ACH, CD333, CEK2, HSFGFR3EX, JTK4}, FGFR2 (fibroblast growth factor receptor 2) [NCBI Gene 2263] {aka BBDS, BEK, BFR-1, CD332, CEK3, CFD1}
- **Diseases:** Apert Syndrome (MESH:D000168), reduced hand function (MESH:D001523), midface hypoplasia and retrusion (MESH:D063173), hypoplastic (MESH:D000741), respiratory distress syndrome (MESH:D012128), neurogenetic disorders (MESH:D020271), neurodevelopmental and neurological disorders (MESH:D009422), agenesis of the septum pellucidum (MESH:C535562), atelectasis (MESH:D001261), colpocephaly (MESH:C535973), hypotonia (MESH:D009123), Craniosynostosis (MESH:D003398), apnea (MESH:D001049), congenital malformations (OMIM:163000), spinal muscular atrophy (MESH:D009134), injury to (MESH:D014947), impaired midface development (MESH:D002658), finger gnosis (MESH:D005383), Crouzon and Pfeiffer syndromes (MESH:D003394), craniofacial dysmorphism (MESH:C537512), hypoplasia (MESH:D000080344), skeletal dysplasia (MESH:C535858), malformations of other organ systems (MESH:D058497), dysgenesis of the corpus callosum (MESH:D061085), neurological abnormalities (MESH:D009461), hereditary disorders (MESH:D009386), cleft soft palate (MESH:C562950), Hexadactyly (MESH:C563087), polyhydramnios (MESH:D006831), Pfeiffer syndrome type 2 (MESH:C535578), motor impairments (MESH:D000068079), Down syndrome (MESH:D004314), craniofacial anomalies (MESH:D019465), Cerebral seizures (MESH:D012640), genetic disorder (MESH:D030342), cerebellum (MESH:D002526), limb malformations (MESH:C535856), neurodevelopmental abnormalities (MESH:D063647), cervical muscle (MESH:D002575), syndactyly (MESH:D013576), cerebral palsy (MESH:D002547), premature fusion (MESH:D000069337)
- **Chemicals:** levetiracetam (MESH:D000077287)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** P253R, S252W

## Full text

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## References

33 references — full list in the complete paper: https://tomesphere.com/paper/PMC13029161/full.md

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Source: https://tomesphere.com/paper/PMC13029161