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Research
Unpacking the complex nature of the autism epidemicThis paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences.
Research
The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
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Siblings of children with disabilities: challenges and opportunitiesSiblings of children with disabilities: challenges and opportunities
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Investigating genotype-phenotype relationships in Rett syndrome using an international data setThis study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
People
Jess KeeleyWithin the Child Disability Team Jess has contributed to research that aims to improve understanding and measurement of the communication of people with CDKL5 Deficiency Disorder (CDD) by conducting and analysing interviews with families.
Research
We examined the impact of introducing a dedicated team to OPAT, to define the role of increased medical oversight in improving patient outcomes in this cohort.To evaluate the risk of stillbirth, PTB, and SGA as a proxy for FGR following exposure to one or more of these factors in a previous birth.
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Health care utilization and costs for children and adults with duchenne muscular dystrophyThe annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood
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New Opportunities for Evidence in Fetal Alcohol Spectrum DisorderRecent research, using objective 3-dimensional facial imaging, has found differences between the facial shape of individuals with FAS and the facial shape of individuals without FAS or with partial FAS
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Somatosensory discrimination intervention improves body position sense and motor performance in children with hemiplegic cerebral palsyThe intervention group improved in goal performance, proprioception, and bimanual hand use and maintained improvement at 6-mo follow-up.