Cognition and Behaviour in Sotos Syndrome: A Systematic Review

BACKGROUND:Research investigating cognition and behaviour in Sotos syndrome has been sporadic and to date, there is no published overview of study findings. METHOD:A systematic review of all published literature (1964-2015) presenting empirical data on cognition and behaviour in Sotos syndrome. Thirty four journal articles met inclusion criteria. Within this literature, data relating to cognition and/or behaviour in 247 individuals with a diagnosis of Sotos syndrome were reported. Ten papers reported group data on cognition and/or behaviour. The remaining papers employed a case study design. RESULTS:Intelligence quotient (IQ) scores were reported in twenty five studies. Intellectual disability (IQ < 70) or borderline intellectual functioning (IQ 70-84) was present in the vast majority of individuals with Sotos syndrome. Seven studies reported performance on subscales of intelligence tests. Data from these studies indicate that verbal IQ scores are consistently higher than performance IQ scores. Fourteen papers provided data on behavioural features of individuals with Sotos syndrome. Key themes that emerged in the behavioural literature were overlap with ASD, ADHD, anxiety and high prevalence of aggression/tantrums. CONCLUSION:Although a range of studies have provided insight into cognition and behaviour in Sotos syndrome, specific profiles have not yet been fully specified. Recommendations for future research are provided

Anaesthetic management of a child with Marshall-Smith syndrome.

PURPOSE: The Marshall-Smith Syndrome (MSS) is a rare disease characterized by orofacial dysmorphism, failure to thrive, accelerated osseous maturation and mental retardation. It has anaesthetic implications due to upper airway problems and possible atlanto-axial instability. We present the perioperative problems (difficult intubation, airway obstruction) encountered in a child with MSS who underwent several anaesthetics during his first two years of life. CLINICAL FEATURES: At birth, the child presented with asphyxia due to obstructive apnoea. His trachea was, therefore, intubated immediately. The morphological diagnosis of MSS was confirmed by the pathognomonic radiological appearance of the bones (bone age was eight months at the age of four days). Upper airway difficulty was caused by functional problems at the level of the hypopharynx (inspiratory collapse at the level of the velum palatinum), and was solved by the use of a nasopharyngeal airway (NPA) during the induction of anaesthesia and early postoperative period. CONCLUSION: The use of an NPA during both induction and recovery of anaesthesia may be particularly useful to prevent upper airway problems in children with MSS