Global Developmental Delay (GDD) A child may be described as having global developmental delay if they have not reached two or more milestones in all areas of development. What is Global Developmental Delay? Babies...
Developmental delay Babies and children usually learn important skills as they develop. In fact, during the first five years of their lives, most children develop more skills than at any other time....
Parent guide: Developmental delay This guide is written for parents and carers whose child has, or might have developmental delay. It explains what is meant by the terms ‘developmental delay’ and ‘global developmental delay’...
Pallister-Killian syndrome Background Pallister-Killian syndrome (PKS) is a rare chromosome disorder, also called tetrasomy isochromosome 12p. Affected individuals display typical facial features as well as developmental delay. Credits Last updated October 2017...
Agenesis of the Corpus Callosum Background Agenesis of the corpus callosum (ACC) is a rare neurological condition where the corpus callosum is underdeveloped. The corpus callosum is a bridge of white matter joining the two...
Claiming DLA higher rate mobility Even if your child has no physical problems with walking, they might still qualify for the higher rate of the DLA mobility component if their behaviour is very difficult to...
Coffin-Siris syndrome Coffin-Siris syndrome is a rare genetic condition first described in 1970 by Dr Coffin and Dr Siris, and is found in both males and females. What are the symptoms of...
Autosomal Recessive Hypophosphatemic Rickets Type 2 Also known as: ARHR2; ENPP1 deficiency Background Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is an extremely rare skeletal condition, characterized by low phosphate levels in the blood (hypophosphatemia) as...
Our team Meet the senior management team and trustees of Contact, the UK charity that supports families of disabled children.
Toxoplasmosis Background Toxoplasmosis is an infection that is caused by the parasite Toxoplasma gondii, which affects all warm blooded animals including humans. Infection is caught by eating anything infected or contaminated with...
Leber’s Congenital Amaurosis Also known as: Leber’s Amaurosis Overview Leber’s congenital amaurosis (LCA) is a rare, inherited disorder of the retina (the light-sensitive cells at the back of the eye), in which there...
Dandy-Walker syndrome Background Dandy-Walker syndrome (DWS) is a brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. Within the...
Congenital disorders of Glycosylation Background Congenital disorders of glycosylation (CDG) are a group of inherited metabolic conditions that affect all parts of the body. In CDG, there are abnormal sugar chains attached to proteins,...
Bardet-Biedl syndrome Also known as: Laurence-Moon-Bardet-Biedl syndrome; Laurence-Moon-Biedl syndrome Background Bardet-Biedl syndrome (BBS) is a rare inherited (autosomal recessive) condition. It is characterised by vision loss, obesity, additional fingers and/or toes, undeveloped...
Home adaptations An adaptation is a change made to your home to make it more accessible and safer for a disabled person.
Wolf-Hirschhorn syndrome Also known as: 4p- syndrome; Chromosome 4p- syndrome; Pitt-Rogers-Danks syndrome Background Wolf-Hirschhorn syndrome is a rare chromosome disorder. The syndrome is caused by a missing section (deletion) of genetic information...
Diabetes – Monogenic Diabetes Also known as: Familial Diabetes; Neonatal diabetes Background Monogenic diabetes (diabetes caused by a genetic change in a single gene) affects approximately 2 per cent of cases of diabetes in...
Who do I speak to about concerns? Who to speak to if you have concerns about any aspect of your child’s development, including sleep, feeding and eating, and behaviour. Personal Child Health Records You receive a Personal...