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OBJECTIVES: To evaluate the prevalence and degree of any neurodevelopmental abnormalities in children with familial hypocalciuric hypercalcemia type 3 (FHH3). STUDY DESIGN: A formal neurodevelopmental assessment was performed in children diagnosed with FHH3. The Vinelands Adaptive Behaviour Scale (VABS), which is a standardised parent report assessment tool for adaptive behaviour, was used to assess communication, social skills, and motor function, and to generate a composite score. RESULTS: Six patients were diagnosed with hypercalcemia between 0.1-8 years of age. All had neurodevelopmental abnormalities in childhood consisting of either global developmental delay, motor delay, expressive speech disturbances, learning difficulties, hyperactivity, or autism spectrum disorder. Four out of the six probands had a composite VABS standard deviation score (SDS) of

Original publication




Journal article


J Pediatr

Publication Date



FHH3, VABS, adaptor protein, cognition, development