Applying the Principles of Behaviorally Based Intensive Therapy for Children With Global Developmental Delays Associated With Genetic Mutations

PURPOSE: Intensive therapies have gained in popularity in recent years because they have repeatedly demonstrated efficacy through sound scientific study. Examples include pediatric constraint-induced movement therapy (pCIMT; Ramey, Coker-Bolt, & DeLuca, 2013) and hand–arm bimanual therapy (HABIT; Gordon, Schneider, Chinnam, & Charles, 2007). Despite the growing interest in these treatments, their availability has been limited to specific diagnoses, mainly cerebral palsy. The purpose of this case series was to determine if the principal, behaviorally based components of these intensive treatments could be used for developing an efficacious treatment for another distinctly different etiology, specifically a form of CASK gene mutation that produces developmental delays in language, motor skills, and social interactions. Children with mutations in the CASK gene experience global developmental delay with prominent disturbances in psychomotor and cognitive skills. We developed and tested an intensive protocol based on pCIMT and HABIT designed to treat visual–motor coordination and social interaction in these children with a goal of increasing independence and age-appropriate behaviors in daily living activities.

DESIGN: Assessment measures and video-based results from a case series will be presented. The university’s institutional review board approved the collection and use of clinical data, and informed consent was obtained. Participants included two girls ages 4 and 7 yr diagnosed with CASK gene mutation who presented with global developmental delays. Both children had significant impairments in language, social interaction, and fine motor control.

METHOD: At the initial assessment, a child and family history was collected and the Peabody Developmental Motor Scale, second edition (PDMS), was administered. Gross Motor Function Classification System, the Manual Abilities Classification System, and the Communication Function Classification System levels were also documented. The PDMS was completed posttreatment. Daily clinical observations and video documentation were also made. Treatment was delivered for both children across a 2-wk period for 4 hr each weekday in the child’s natural environment. Therapy included play and daily living activities that were systematically shaped toward targeted behaviors using goal-directed, repetitive practice using principles of operant conditioning, all of which are primary components of both pCIMT and HABIT. Therapy was provided by two trained therapists with over 10 yr experience in delivering pCIMT. Pre- and posttreatment comparisons were completed for each participant on the PDMS. Video and daily treatment logs were analyzed for changes not identified by the PDMS.

RESULTS: Both participants acquired functional gains in visual–motor coordination, motor planning, and age-appropriate functional skills including communication, behavior, social interactions, environmental awareness, and object recognition.

CONCLUSION: The intensive therapy protocol positively impacted functional development for the two participants with CASK gene mutation. Further research is needed to determine if intensive therapies are beneficial for children with varying developmental disorders, but these findings suggest that protocols can be developed for children who have global developmental delay secondary to a variety of disorders. There is currently a paucity of available treatments for children with genetic disorders who present with developmental delays, and behaviorally based intensive treatments can be developed. Many children and families who currently have limited treatment avenues will be impacted by creating increased daily functioning for children with genetic syndromes.

References

Gordon, A. M., Schneider, J. A., Chinnam, A., & Charles, J. (2007). Efficacy of hand–arm bimanual intensive training (HABIT) in children with hemiplegic cerebral palsy: A randomized controlled trial. Developmental Medicine and Child Neurology, 49, 830–838. https://doi.org/10.1111/j.1469-8749.2007.00830.x

Ramey, S. L., Coker-Bolt, P., & DeLuca, S. C. (2013). Handbook of pediatric constraint-induced movement therapy (CIMT): A guide for occupational therapy and health care clinicians, researchers, and educators. Bethesda, MD: AOTA Press.