Neurodevelopmental and Behavioral approach in the case of Coffin-Siris Syndrome

What is it about?

Developmental delay is quite common worldwide. Developmental delay is a condition where a child is delayed in attaining age-appropriate milestones in a specific domain. It can be attributed to many reasons. Children with developmental disorders are often considered stigma by the society which causes increased parental stress for parents of children with neurodevelopmental disorders. Often, healthcare professionals may reach a clinical diagnosis at the molecular/genetic level, but making a child better functioning at home and school setting sounds more promising to parents. It is always the task of a multi-disciplinary team to make children capable to adapt to society. The team consists of a Neurodevelopmental Pediatrician, Neurologist, geneticist, and a group of therapists including a speech and language therapist, occupational therapist, physiotherapist, special educator, and school teachers keeping in center parents along with the child. Coffin-Siris syndrome (CSS) is one such condition with developmental delay. It is one of the rare genetic disorders with distinct facial features, low cognition, language delay, and behavioral issues in children. Thorough neuropsychological assessments are required to observe a child's functioning level. We also get to know the strengths and weaknesses which help the child become independent and hence improve his quality of life. There are around 200 cases reported worldwide of CSS. However, the data related to behavioral, scholastic, and socio-adaptive functioning is lacking especially from countries like India. In our report, we made an attempt to work on similar lines. After a thorough history, observation and evaluation the clinical diagnosis was confirmed with the help of genetic testing and was confirmed as a case of coffin siris syndrome. His thorough neuropsychological assessments revealed mild deficits in cognition, self-care, and adaptive domain. He had behavioral issues like social communication deficit and inattention along with poor scholastic abilities. After an objective assessment of the child’s functioning, an intervention plan made by a multidisciplinary team helps such children to live optimally. Parents are also trained at home to provide the optimum care and gain confidence in better handling and meeting the special health care needs of the child.

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Why is it important?

In India, the percentage of children aged 2-9 years with one or more neurodevelopmental disorders is around 8-18%. In resource-limited settings like India where insurance coverage does not provide support to families with children with neurodevelopmental disorders. Moreover, limited awareness among parents and society are hurdles in executing the optimum standard of care; the parents and children with special health care need to suffer. Although genetic syndromes are less seen in proportion in child health practices evaluation and management are always crucial for the clinician. Thorough and detailed assessments performed with the child and parent help to make the goal-based intervention plan and its achievement possible. Moreover, re-evaluations can then track progress over time which facilitates a follow-up treatment plan. Accompanying complaints and comorbidities will also be diagnosed with a holistic approach.

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