Why we need international rare disease registers to study individual rare disorders associated with intellectual disabilities

QR Code

Why we need international rare disease registers to study individual rare disorders associated with intellectual disabilities

No Abstract Available

Bibliographic Details
Main Authors:	Leonard, H., Downs, Jennepher, Wong, K., Mackay, J., Boban, S., Mangatt, M., Epstein, A., Anderson, B., Lim, Z., Mori, Y.
Format:	Conference Paper
Published:	WILEY-BLACKWELL 2016
Online Access:	http://hdl.handle.net/20.500.11937/74754

Similar Items

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability
by: Mori, Y., et al.
Published: (2018)

Barriers to diagnosis of a rare neurological disorder in China - Lived experiences of Rett Syndrome families
by: Lim, F., et al.
Published: (2012)

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
by: Mangatt, M., et al.
Published: (2016)

Vitamin D and people with intellectual disability
by: Vanlint, S., et al.
Published: (2008)

Characterising quality of life in children with intellectual disabilities
by: Downs, Jennepher, et al.
Published: (2016)

A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder
by: Tangarorang, J., et al.
Published: (2019)

Reliability of the Quality of Life Inventory-Disability Measure in Children with Intellectual Disability
by: Jacoby, P., et al.
Published: (2020)

Need for a new international rare disease database: the MECP2 duplication syndrome
by: Leonard, H., et al.
Published: (2015)

CDKL5 variants: Improving our understanding of a rare neurologic disorder.
by: Hector, R., et al.
Published: (2017)

Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders
by: Downs, Jennepher, et al.
Published: (2015)

Comorbidities and quality of life in children with intellectual disability
by: Reddihough, D., et al.
Published: (2021)

Sleep problems are pervasive in Rett syndrome and the CDKL5 disorder
by: Downs, Jennepher, et al.
Published: (2016)

Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life
by: Mori, Y., et al.
Published: (2017)

Determinants of sleep problems in children with intellectual disability
by: Gilbertson, M., et al.
Published: (2021)

Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?
by: Davis, E., et al.
Published: (2017)

Caring for a child with severe intellectual disability in China: The example of Rett syndrome
by: Lim, Faye, et al.
Published: (2013)

Why are Aedes mosquitoes rare colonisers of Nepenthes pitcher plants?
by: Chou, L., et al.
Published: (2015)

A guide for the assessment and management of vitamin D status in people with intellectual disability (developed as an AADDM Working Party initiative)
by: Vanlint, S., et al.
Published: (2008)

Rare renal manifestation of plasma cell disorder
by: Shahar, Shamira, et al.
Published: (2024)

Transition to adulthood for young people with intellectual disability: the experiences of their families
by: Leonard, H., et al.
Published: (2016)

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
by: Boban, S., et al.
Published: (2016)

Rare variants in nucleotide methylation genes and neurodevelopmental disorders
by: Parke, Adam
Published: (2019)

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability
by: Wong, K., et al.
Published: (2019)

Rare Cancers
by: Zeps, Nikolajs, et al.
Published: (2015)

Examples of individual supported living for adults with intellectual disability
by: Cocks, Errol, et al.
Published: (2016)

Survival of children and adolescents with intellectual disability following gastrostomy insertion
by: Wong, K., et al.
Published: (2020)

Forensic aspects of intellectual disabilities and autism spectrum disorders
by: Nugent, Stella
Published: (2016)

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure
by: Downs, Jennepher, et al.
Published: (2018)

CLIPPERS the brain biter: An adolescent’s experience of a rare CNS disorder
by: Anuar, Muhamad Azamin, et al.
Published: (2019)

On rare mutation and chaos
by: Ganikhodjaev, Nasir, et al.
Published: (2013)

The rare gem that is Armstrong
by: Abd Razak, Dzulkifli
Published: (2009)

The risk of re-identification versus the need to identify individuals in rare disease research.
by: Hansson, M., et al.
Published: (2016)

Addressing challenges in gaining informed consent for a research study investigating falls in people with intellectual disability
by: Ho, P., et al.
Published: (2018)

Acute post-traumatic locked knee - an unmasking of a rare knee disorder
by: Mohd Nizlan, Nasir, et al.
Published: (2022)

Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review protocol
by: Ho, P., et al.
Published: (2017)

Intellectual disability: Population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy
by: O'Leary, Colleen, et al.
Published: (2013)

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices
by: Boban, S., et al.
Published: (2018)

An rare cause of urinary retention
by: Kamarulzaman, Mohd Nazli, et al.
Published: (2015)

Rare Bay Cat spotted
by: The, Star
Published: (2012)

Veterinarian gets rare honour
by: David, Adrian
Published: (2019)

Cannot write session to /tmp/vufind_sessions/sess_7bdgk6dbb25m6jtebpn3mgulsn