Challenges in the treatment of neurodevelopmental disorder: Sanfilippo syndrome – a multimodal treatment approach.

BACKGROUND: Sanfilippo syndrome, one of mucopolysaccharidoses is neuro developmental disorder characterised by severe degeneration of the central nervous system, resulting in mental retardation and hyperactivity, typically commencing during childhood. Visual changes, difficulty in breathing and swallowing, respiratory infections, heart disease, enlarged liver and spleen, hernias are also present along with musculoskeletal abnormalities of spine, hip and knee limiting the overall life expectancy to late teens or early twenties. Multi system involvement in neurodevelopmental disorders like Sanfilippo syndrome demands a multi modal approach. CASE REPORT: A 7-year-old, girl, studying kindergarten, coming from a middle socio-economic status, living in a nuclear family set-up was diagnosed with Sanfillipo syndrome with co-morbid ADHD and moderate intellectual disability. Born to third degree consanguineous parents her ante-natal, natal and immediate post-natal period was uneventful. In 2019 she presented to us referred from our Paediatric orthopaedic department with incidental finding for mucopolysaccharidoses. She presented to us with complaints of hyperactivity and poor scholastic performance. She was initially seen in our Child health Clinic and later was evaluated and diagnosed as Sanfilippo syndrome is one of mucopolysaccharidoses in Pediatric neurology and Medical genetics clinic. After assessment of for the concerns of referral under ACTeRS she was diagnosed with co-morbid ADHD. She was treated with low dose anti-psychotic and had no response. Hence as a multi-modal treatment approach for her co-morbid ADHD with Sanfillipo syndrome - she was started on T.Atomoxetine and had 3 months training program for NDD in our Nambikkai Nilayam (NN) with surgical corrections for skeletal deformities in our Pediatric ortho department prior to her admission in NN. With these multi -modality measures she improved in her symptoms overall. CONCLUSION: With increasing awareness and health care facility there has been an outburst in incidence of neuro developmental and genetic disorders. Though a number of genetic and biochemical diagnostic methods have been developed to confirm the diagnosis, there is no effective therapy available for neuro developmental and genetic disorders – in this patient it was MPS III. Multi system involvement demanding multi-disciplinary approach – involving multiple specialities is needed to improve the quality of life in these children and to reduce the care giver burden.