Alpha Thalassaemia X-intellectual disability syndrome Also known as: Alpha Thalassaemia Mental Retardation syndrome; Mental Retardation on the X-chromosome Background Alpha Thalassaemia X-intellectual disability (ATR-X) syndrome is a very rare genetic condition that affects boys only....
Microcephaly Background Microcephaly is a term used when there is sub-optimal growth of the brain, which causes it to be smaller than usual. Microcephaly is discovered after measuring the child’s head...
Families enjoy outdoor adventures thanks to generous Freemason grant A generous grant from Nottinghamshire Freemasons meant that Contact was able to offer 20 families a free session at the Woodland Adventure Zone where they were able to take part...
Pituitary disorders Background Pituitary disorders fall into the category of endocrine disease. The pituitary gland is small and pea-shaped, and is situated at the base of the brain within a bony cup...
Challenging Behaviour As all children grow up there are times when they show difficult or inappropriate behaviour. Challenging behaviour is a term that is used to describe particularly “difficult” or “problematic” behaviour,...
#MakeHistory with Contact at a festival of inclusivity and challenge events! Parallel Games Windsor 2023 poster
Building resilience and wellbeing for parents Building resilience and wellbeing for parents Job advert Wanted: Someone to work 24 hours a day, seven days a week, all year. Holiday entitlement: Nil Salary: £62.10 per week (Carer’s Allowance 2017/18) Essential skills: ...
Vestibular Schwannoma Also known as: Acoustic Neuroma A vestibular schwannoma is a benign (non cancerous), usually slow growing, brain tumour and accounts for six to ten per cent of all brain tumours....
Glanzmann’s Thrombasthenia Also known as: Glanzmann Thrombasthenia Background Glanzmann’s thrombasthenia (GT) is a rare genetic bleeding disorder affecting the small cell fragments in the blood called platelets. Platelets are important because after...
Niemann-Pick disease Background Niemann-Pick disease is an inherited metabolic condition which affects the body’s ability to breakdown, transport, and use fats and cholesterol (lipid metabolism). In people with this condition, abnormal lipid...
Families with disabled children left financially devastated by pandemic, new study reveals Many families with disabled children are still living with the financial fallout from the pandemic. Almost half of families with disabled children report a devastating drop in household income of...
Becker Muscular Dystrophy Also known as: Becker MD Background Becker muscular dystrophy (BMD) is a rare genetic condition associated with mutations (changes) in the dystrophin gene. An individual needs a range of proteins...
Organic Acidaemias Background The organic acidaemias (also known as organic acidurias) are a group of inherited conditions that affect the way the body is able to break down (metabolise) amino acids (the...
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...
Kabuki syndrome Also known as: Kabuki Make-up syndrome; Niikawa-Kuroki syndrome Kabuki syndrome is a genetic condition that results in a typical pattern of physical and developmental problems. The facial features of the...
Mental health, autistic and learning disabled children If your child is experiencing a mental health crisis, it’s helpful to know what extra support is available and how to get it. This might be to help keep them...
Familial Spastic Paraplegia Also known as: Familial Spastic Paraparesis; Hereditary Spastic Paraplegia; Strümpell-Lorrain disease Background Familial spastic paraplegia (FSP) describes a group of largely progressive conditions predominantly affecting the legs. At a clinical...
Generalised Arterial Calcification of Infancy Background Generalised arterial calcification of infancy (GACI) is a very rare condition, which was first described in 1901. Since this time, only a very small number of infants (approximately 100...