Helen Leonard

Summary

Affiliation: University of Western Australia
Country: Australia

Publications

  1. ncbi request reprint The epidemiology of mental retardation: challenges and opportunities in the new millennium
    Helen Leonard
    Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, West Perth, Australia
    Ment Retard Dev Disabil Res Rev 8:117-34. 2002
  2. doi request reprint Early determinants of fractures in Rett syndrome
    Jennepher Downs
    Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia, 6872
    Pediatrics 121:540-6. 2008
  3. pmc Autism and intellectual disability are differentially related to sociodemographic background at birth
    Helen Leonard
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia
    PLoS ONE 6:e17875. 2011
  4. doi request reprint Level of purposeful hand function as a marker of clinical severity in Rett syndrome
    Jenny Downs
    Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, Perth, Australia
    Dev Med Child Neurol 52:817-23. 2010
  5. doi request reprint The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life
    Paula Dyke
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, WA, Australia
    J Intellect Dev Disabil 38:149-62. 2013
  6. ncbi request reprint Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment: a population-based study
    Melissa O'Donnell
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, WA, Australia
    Int J Epidemiol 39:921-8. 2010
  7. doi request reprint Monitoring child abuse and neglect at a population level: patterns of hospital admissions for maltreatment and assault
    Melissa O'Donnell
    Telethon Institute for Child Health Research, University of Western Australia, 100 Roberts Road, Subiaco 6008, Perth, Western Australia, Australia
    Child Abuse Negl 34:823-32. 2010
  8. doi request reprint Impact of scoliosis surgery on activities of daily living in females with Rett syndrome
    Jenny Downs
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia
    J Pediatr Orthop 29:369-74. 2009
  9. ncbi request reprint Rett syndrome in Australia: a review of the epidemiology
    Crystal L Laurvick
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth
    J Pediatr 148:347-52. 2006
  10. doi request reprint Caring for a child with severe intellectual disability in China: the example of Rett syndrome
    Faye Lim
    Telethon Institute for Child Health Research, Center for Child Health Research, The University of Western Australia, PO Box 855 West Perth, Western Australia 6872, Australia
    Disabil Rehabil 35:343-51. 2013

Collaborators

Detail Information

Publications55

  1. ncbi request reprint The epidemiology of mental retardation: challenges and opportunities in the new millennium
    Helen Leonard
    Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, West Perth, Australia
    Ment Retard Dev Disabil Res Rev 8:117-34. 2002
    ..However, in order to apply to MR the "prevention-intervention-research" cycle, which surely underpins all epidemiology, it is vital to ensure that the methodological challenges we raise are adequately addressed...
  2. doi request reprint Early determinants of fractures in Rett syndrome
    Jennepher Downs
    Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia, 6872
    Pediatrics 121:540-6. 2008
    ....
  3. pmc Autism and intellectual disability are differentially related to sociodemographic background at birth
    Helen Leonard
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia
    PLoS ONE 6:e17875. 2011
    ..Research findings investigating the sociodemographics of autism spectrum disorder (ASD) have been inconsistent and rarely considered the presence of intellectual disability (ID)...
  4. doi request reprint Level of purposeful hand function as a marker of clinical severity in Rett syndrome
    Jenny Downs
    Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, Perth, Australia
    Dev Med Child Neurol 52:817-23. 2010
    ..We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome...
  5. doi request reprint The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life
    Paula Dyke
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, WA, Australia
    J Intellect Dev Disabil 38:149-62. 2013
    ....
  6. ncbi request reprint Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment: a population-based study
    Melissa O'Donnell
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, WA, Australia
    Int J Epidemiol 39:921-8. 2010
    ..To investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment...
  7. doi request reprint Monitoring child abuse and neglect at a population level: patterns of hospital admissions for maltreatment and assault
    Melissa O'Donnell
    Telethon Institute for Child Health Research, University of Western Australia, 100 Roberts Road, Subiaco 6008, Perth, Western Australia, Australia
    Child Abuse Negl 34:823-32. 2010
    ....
  8. doi request reprint Impact of scoliosis surgery on activities of daily living in females with Rett syndrome
    Jenny Downs
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia
    J Pediatr Orthop 29:369-74. 2009
    ..Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis...
  9. ncbi request reprint Rett syndrome in Australia: a review of the epidemiology
    Crystal L Laurvick
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth
    J Pediatr 148:347-52. 2006
    ..To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT)...
  10. doi request reprint Caring for a child with severe intellectual disability in China: the example of Rett syndrome
    Faye Lim
    Telethon Institute for Child Health Research, Center for Child Health Research, The University of Western Australia, PO Box 855 West Perth, Western Australia 6872, Australia
    Disabil Rehabil 35:343-51. 2013
    ..Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support services available for them and their caregivers...
  11. pmc The phenotype associated with a large deletion on MECP2
    Ami Bebbington
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia, Australia
    Eur J Hum Genet 20:921-7. 2012
    ..We have described the disorder profile associated with a large deletion from the largest sample to date and have found that the phenotype is severe with motor skills particularly affected...
  12. doi request reprint Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database
    Philippa Carter
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia
    Mov Disord 25:282-8. 2010
    ..Results were similar for all cases and when restricted to those with a pathogenic mutation. Hand stereotypies changed with increasing age but limited relationships with MECP2 mutations were identified...
  13. doi request reprint Autism spectrum disorders in young children: effect of changes in diagnostic practices
    Natasha Nassar
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, WA, Australia
    Int J Epidemiol 38:1245-54. 2009
    ....
  14. pmc Maternal conditions and perinatal characteristics associated with autism spectrum disorder and intellectual disability
    Amanda T Langridge
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Australia
    PLoS ONE 8:e50963. 2013
    ..This raises questions about similarities and overlap in diagnosis and aetiological pathways that may exist for both conditions...
  15. doi request reprint Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome
    Stephanie Fehr
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Australia
    J Child Neurol 26:980-7. 2011
    ..It is important for clinicians to be aware of variable early development in Rett syndrome and that timely genetic testing is not precluded on this account...
  16. ncbi request reprint Predictors of seizure onset in Rett syndrome
    Le Jian
    Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia, Australia
    J Pediatr 149:542-7. 2006
    ..To investigate risk factors for seizure onset in Rett syndrome...
  17. ncbi request reprint Relation between intrauterine growth and subsequent intellectual disability in a ten-year population cohort of children in Western Australia
    Helen Leonard
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, West Perth, Australia
    Am J Epidemiol 167:103-11. 2008
    ..36, 95% CI: 0.93, 6.03). These findings suggest that inappropriate intrauterine growth, less than or greater than optimal birth weight, is associated with development of ID...
  18. ncbi request reprint The diagnosis of autism in a female: could it be Rett syndrome?
    Deidra J Young
    Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, Perth, WA, Australia
    Eur J Pediatr 167:661-9. 2008
    ..We recommend that females who are initially considered to have autism be carefully monitored for the evolution of the signs and symptoms of Rett syndrome...
  19. pmc Sleep problems in Rett syndrome
    Deidra Young
    Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, 100 Roberts Road, Subiaco, WA 6008, Australia
    Brain Dev 29:609-16. 2007
    ..R294X or p.R306C mutations. Sleep problems are common in Rett syndrome and there is some variation with age and mutation type...
  20. pmc Seizures in Rett syndrome: an overview from a one-year calendar study
    Le Jian
    Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, West Perth, WA 6872, Australia
    Eur J Paediatr Neurol 11:310-7. 2007
    ..It is principally caused by mutations in the MECP2 gene. Seizures occur in about 80% of subjects but there has been little research into the factors contributing to their frequency...
  21. pmc Physical and mental health in mothers of children with Down syndrome
    Jenny Bourke
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia
    J Pediatr 153:320-6. 2008
    ..To identify the relationship between characteristics of the child with Down syndrome and the health of their mother...
  22. pmc Assessment and management of nutrition and growth in Rett syndrome
    Helen Leonard
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia Department of Gastroenterology, Princess Margaret Hospital for Children, Perth Department of Developmental Medicine, Royal Children s Hospital, Murdoch Children s Research Institute, Melbourne Western Sydney Genetics Program, Children s Hospital at Westmead, Discipline of Paediatrics and Genetic Medicine, University of Sydney, Sydney, Australia Civitan International Research Centre, University of Alabama, Birmingham, AL Department of Otolaryngology, Head Neck Surgery, and Radiology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY Katie s Clinic for Rett Syndrome, Children s Hospital and Research Center, Oakland, CA
    J Pediatr Gastroenterol Nutr 57:451-60. 2013
    ..We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an expert panel of clinicians...
  23. pmc The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
    Stephanie Fehr
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia, Australia
    Eur J Hum Genet 21:266-73. 2013
    ..Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant...
  24. pmc Linking MECP2 and pain sensitivity: the example of Rett syndrome
    Jenny Downs
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Australia
    Am J Med Genet A 152:1197-205. 2010
    ..Clinical practice should include a low threshold for the clinical assessment of potential injuries in Rett syndrome...
  25. pmc Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome
    Stephanie Fehr
    The Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia, Australia
    Am J Med Genet A 152:2535-42. 2010
    ..R133C or p.R294X mutation. Educational resources to assist this understanding including guidance on when to request genetic testing could be useful to streamline the process of diagnosis in Rett syndrome...
  26. ncbi request reprint Physical and mental health of mothers caring for a child with Rett syndrome
    Crystal L Laurvick
    Telethon Institute for Child Health Research, University of Western Australia, Perth, Western Australia, Australia
    Pediatrics 118:e1152-64. 2006
    ..Our goal was to investigate the physical and mental health of mothers who care for a child with Rett syndrome...
  27. ncbi request reprint Co-occurrence of birth defects and intellectual disability
    Beverly Petterson
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, West Perth, WA 6872, Australia
    Paediatr Perinat Epidemiol 21:65-75. 2007
    ..4] respectively. The data are useful for those providing services for children with developmental disabilities especially for predicting family support and respite and accommodation requirements for children and adults with severe ID...
  28. pmc The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database
    Laila Robertson
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Western Australia, Australia
    Am J Med Genet B Neuropsychiatr Genet 141:177-83. 2006
    ..Some behaviors differ according to genetic mutation but there is both inter and intra mutation variation in behavior and there is a need for larger studies involving international collaboration to improve statistical power...
  29. doi request reprint Longitudinal hand function in Rett syndrome
    Jennepher Downs
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia, Australia
    J Child Neurol 26:334-40. 2011
    ..The results for all subjects were similar to results obtained when analysis was restricted to those with a pathogenic mutation. Variability in the longitudinal course of hand function in Rett syndrome was observed...
  30. doi request reprint Gastrointestinal dysmotility in rett syndrome
    Gordon Baikie
    Department of Developmental Medicine, Royal Children s Hospital, Murdoch Children s Research Institute, Melbourne Department of Gastroenterology, Princess Margaret Hospital for Children Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Australia Department of Pediatrics Civitan International Research Centre, University of Alabama, Birmingham, AL Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Edmond and Lily Safra Children s Hospital, Tel Hashomer, Israel Western Sydney Genetics Program, Children s Hospital at Westmead, Discipline of Paediatrics and Genetic Medicine, University of Sydney, Sydney, Australia
    J Pediatr Gastroenterol Nutr 58:244-51. 2014
    ..Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease, constipation, and abdominal bloating in Rett syndrome...
  31. pmc Trends in the diagnosis of Rett syndrome in Australia
    Stephanie Fehr
    Centre for Child Health Research, The University of Western Australia, Perth, Western Australia 6008, Australia
    Pediatr Res 70:313-9. 2011
    ..45)] in comparison with 5 y of age [1/15,361 or 6.51 per 100,000 person-years (95% CI, 5.65-7.39)]. Earlier age of diagnosis may result in families experiencing less stress and emotional strain compared with those with delayed diagnosis...
  32. ncbi request reprint Association of sociodemographic characteristics of children with intellectual disability in Western Australia
    Helen Leonard
    Centre for Child Health Research, Telethon Institute for Child Health Research, The University of Western Australia, P O Box 855, West Perth, WA 6872, Australia Disability Services Commission, Western Australia, Australia
    Soc Sci Med 60:1499-513. 2005
    ..Furthermore, many of the sociodemographic correlates identified in this study, particularly in the mild/moderate category of ID, are potentially modifiable, opening up opportunities for primary prevention...
  33. doi request reprint Increasing prevalence of neonatal withdrawal syndrome: population study of maternal factors and child protection involvement
    Melissa O'Donnell
    Telethon Institute for Child Health Research, 100 Roberts Rd, Subiaco, WA, 6008, Australia
    Pediatrics 123:e614-21. 2009
    ..The aim of this study was to measure the birth prevalence of neonatal withdrawal syndrome over time, associated maternal characteristics and child protection involvement...
  34. ncbi request reprint Feeding experiences and growth status in a Rett syndrome population
    Wendy H Oddy
    Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Australia
    J Pediatr Gastroenterol Nutr 45:582-90. 2007
    ..Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the factors affecting growth...
  35. pmc Direct health care costs of children and adolescents with Down syndrome
    Elizabeth A Geelhoed
    School of Population Health, The University of Western Australia, Crawley, Western Australia, Australia
    J Pediatr 159:541-5. 2011
    ..To assess the direct annual health care costs for children and adolescents with Down syndrome in Western Australia and to explore the variation in health care use including respite, according to age and disease profile...
  36. pmc Twenty years of surveillance in Rett syndrome: what does this tell us?
    Alison Anderson
    Telethon Kids Institute, The University of Western Australia, PO Box 855, West Perth, WA 6872, Australia
    Orphanet J Rare Dis 9:87. 2014
    ..Survival and how these characteristics persist or change in adulthood are less well documented. This study aimed to describe overall survival and adult health in those with Rett syndrome...
  37. ncbi request reprint Maternal health in pregnancy and intellectual disability in the offspring: a population-based study
    Helen Leonard
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Australia
    Ann Epidemiol 16:448-54. 2006
    ..The aim of the study is to investigate the relationship between common maternal conditions and intellectual disability (ID) of unknown cause in the offspring...
  38. ncbi request reprint Predictors of scoliosis in Rett syndrome
    Sarah Ager
    Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, West Perth, WA 6872, Australia
    J Child Neurol 21:809-13. 2006
    ..When seven common point mutations and large genomic and C-terminal deletions were compared, the R294X mutation appeared to provide some protective effect against the development of scoliosis...
  39. ncbi request reprint Association of birth outcomes and maternal, school, and neighborhood characteristics with subsequent numeracy achievement
    Eva Malacova
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Subiaco, Western Australia, Australia
    Am J Epidemiol 168:21-9. 2008
    ..In summary, term birth and increased growth in head circumference and length are key birth characteristics associated with higher numeracy scores, especially among disadvantaged children...
  40. doi request reprint Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study
    Vera A Morgan
    Neuropsychiatric Epidemiology Research Unit, School of Psychiatry and Clinical Neurosciences, The University of Western Australia, Australia
    Br J Psychiatry 193:364-72. 2008
    ..The separation of mental health from intellectual disability services has led to a serious underestimation of the prevalence of dual diagnosis, with clinicians ill-equipped to treat affected individuals...
  41. ncbi request reprint Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence
    Jenny Downs
    Centre for Child Health Research, Telethon Institute for Child Health Research, Perth, Australia
    Spine (Phila Pa 1976) 34:E607-17. 2009
    ..Modified Delphi technique...
  42. pmc Hospital admissions in children with down syndrome: experience of a population-based cohort followed from birth
    Patrick Fitzgerald
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Crawley, Western Australia, Australia
    PLoS ONE 8:e70401. 2013
    ..This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia...
  43. pmc Health Conditions and Their Impact among Adolescents and Young Adults with Down Syndrome
    Terri J Pikora
    Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia
    PLoS ONE 9:e96868. 2014
    ..To examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the impact of these conditions upon their lives...
  44. pmc Neonatal outcomes after preterm birth by mothers' health insurance status at birth: a retrospective cohort study
    Kristjana Einarsdóttir
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, 100 Roberts Road, Subiaco, WA 6008, Australia
    BMC Health Serv Res 13:40. 2013
    ....
  45. doi request reprint Barriers to diagnosis of a rare neurological disorder in China--lived experiences of Rett syndrome families
    Faye Lim
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia
    Am J Med Genet A 158:1-9. 2012
    ....
  46. ncbi request reprint Prevalence of intellectual disability in Western Australia
    Helen Leonard
    Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, Western Australia
    Paediatr Perinat Epidemiol 17:58-67. 2003
    ..3). Although prevalence of intellectual disability has been found to vary according to study location, method of ascertainment and criteria used, these estimates are similar to estimates from several recent studies...
  47. ncbi request reprint Genotype and early development in Rett syndrome: the value of international data
    Helen Leonard
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia
    Brain Dev 27:S59-S68. 2005
    ..Originally the syndrome was characterised as having a normal prenatal and perinatal period with later regression. Previous work has speculated that the girl with Rett syndrome may not be normal at birth...
  48. ncbi request reprint Effectiveness of posthumous molecular diagnosis from a kept baby tooth
    Helen Leonard
    Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia
    Lancet 366:1584. 2005
  49. ncbi request reprint Perspectives on hand function in girls and women with Rett syndrome
    Jenny Downs
    Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia
    Dev Neurorehabil 17:210-7. 2014
    ..Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome...
  50. ncbi request reprint How can the Internet help parents of children with rare neurologic disorders?
    Helen Leonard
    Telethon Institute for Child Health Research and Centre for Child Health Research, The University of Western Australia, West Perth, Australia
    J Child Neurol 19:902-7. 2004
    ..Their impact and influence warrant attention from health professionals, including neurologists...
  51. ncbi request reprint p.R270X MECP2 mutation and mortality in Rett syndrome
    Le Jian
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia, Australia
    Eur J Hum Genet 13:1235-8. 2005
    ..94, P=0.01). Our observation of a reduced survival associated with the p.R270X mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome...
  52. ncbi request reprint Health service use in Rett syndrome
    Hannah Moore
    Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, Perth, Western Australia
    J Child Neurol 20:42-50. 2005
    ..Both genetic and sociodemographic determinants of health service use were identified, with important implications for the optimal and equitable management of children with Rett syndrome...
  53. ncbi request reprint InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome
    Susan Fyfe
    School of Biomedical Sciences, Curtin University of Technology, Perth, WA, Australia
    J Child Neurol 18:709-13. 2003
    ..This Web-based database will be an invaluable resource for understanding the nature of the disorder and managing children and adults with Rett syndrome...
  54. pmc Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
    Linda S Weaving
    Western Sydney Genetics Program, The Children s Hospital at Westmead, New South Wales, Australia
    Am J Hum Genet 75:1079-93. 2004
    ..However, it remains to be determined whether CDKL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations...
  55. doi request reprint A guide for the assessment and management of vitamin D status in people with intellectual disability (developed as an AADDM Working Party initiative)
    Simon Vanlint
    Discipline of General Practice, University of Adelaide, SA, Australia
    J Intellect Dev Disabil 33:184-8. 2008