Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Paul A MulderI D C van BalkomA M LandlustM PrioloL A MenkeI H AceroF S AlkurayaP AriasL BernardiniE K BijlsmaT ColeC CoubesI DapiaS DaviesN Di DonatoN H ElciogluJ A FahrnerA FosterN G GonzálezI HuberM IasconeA-S KaiserA KamathK KooblallP LapunzinaJ LiebeltS A LynchS M MaasC MammìI B MathijssenS McKeeG M MirzaaT MontgomeryD NeubauerT E NeumannL PintomalliM A PisantiA S PlompS PriceC SalterF Santos-SimarroP SardaD SchanzeM SegoviaC Shaw-SmithS SmithsonM SuriK Tatton-BrownJ TenorioR V ThakkerR M ValdezA Van HaeringenJ M Van HagenM ZenkerM ZollinoW W DunnS PieningR C HennekamPublished in: Journal of intellectual disability research : JIDR (2020)
Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.