What are the symptoms? Boys affected by ATR-X syndrome may experience the following: learning disability and delayed development – boys show a varied range of learning difficulty/intellectual disability and delay in meeting developmental milestoneslack of language – this is common with some boys only learning to sign a few wordshypotonia (weak muscle tone) – which delays motor skills, such as sitting, standing and walking and can affect feeding as welldistinctive facial appearance – including widely spaced eyes, a small nose with upturned nostrils and low-set earsalpha thalassaemia – most boys have mild signs of this. The condition reduces the production of haemoglobin which carries oxygen around the body. Sometimes red blood cells may be small in size (microcytic anaemia)microcephaly (small head size)short statureskeletal abnormalitiesgastrointestinal problems – gastroesophageal reflux (backflow of stomach acid into the food pipe) and constipationgenital abnormalities – affected males may have undescended testicles, hypospadias (opening of the urethra on the underside of the penis), or ambiguous genitals (those that do not look male or female). What are the causes ATR-X syndrome is caused by a mutation in the ATRX gene. Although the exact function of the ATRX gene is unknown, it is thought to be involved in regulating the expression of other genes in the body. How is it diagnosed? By using a specific stain, the red blood cells of someone affected by ATR-X syndrome have a golf ball-like appearance under the microscope which allows the diagnosis of ATR-X to be confirmed by a simple blood test in 85% of cases. Testing the DNA to look for the change (mutation) in the ATRX gene can confirm the diagnosis. How is it treated? Boys affected by the condition require support in various areas to develop to their full potential. Infant stimulation, early intervention and special education are very important to encourage development. Alternative forms of communication, such as signing, PECS and Makaton may be used. Infantile hypotonia is common and is associated with difficulty sucking, so extra nutritional support may be needed (such as special teats and tube feeding into the stomach). Medications may be used to alleviate gastroesophageal reflux. Physical therapy may be needed to help movement and also relieve spasticity (tightness in muscle) if it occurs. The anaemia associated with alpha thalassaemia is usually mild and very few cases need treatment. Undescended testes should be monitored with scanning, as the testicles may become cancerous if left inside the abdomen. Inheritance patterns and prenatal diagnosis Inheritance patternsThis condition is transmitted in an X-linked recessive manner. Affected families should be referred to a genetics centre for information and support. Prenatal diagnosisThis may be possible in some families where the mutation in the family has been identified. Is there support? ATR-X Support Group Tel: 01606 44943Email: davidwalker825@btinternet.com The group offers support for people affected by Alpha Thalassaemia and their families. It links families where possible, and welcome calls from anyone with an interest in this condition. Group details last updated January 2016. There is a very active international Facebook page for affected families. It’s a closed group but can be reached at: https://www.facebook.com/groups/163849465337/
What are the symptoms? Boys affected by ATR-X syndrome may experience the following: learning disability and delayed development – boys show a varied range of learning difficulty/intellectual disability and delay in meeting developmental milestoneslack of language – this is common with some boys only learning to sign a few wordshypotonia (weak muscle tone) – which delays motor skills, such as sitting, standing and walking and can affect feeding as welldistinctive facial appearance – including widely spaced eyes, a small nose with upturned nostrils and low-set earsalpha thalassaemia – most boys have mild signs of this. The condition reduces the production of haemoglobin which carries oxygen around the body. Sometimes red blood cells may be small in size (microcytic anaemia)microcephaly (small head size)short statureskeletal abnormalitiesgastrointestinal problems – gastroesophageal reflux (backflow of stomach acid into the food pipe) and constipationgenital abnormalities – affected males may have undescended testicles, hypospadias (opening of the urethra on the underside of the penis), or ambiguous genitals (those that do not look male or female).
What are the causes ATR-X syndrome is caused by a mutation in the ATRX gene. Although the exact function of the ATRX gene is unknown, it is thought to be involved in regulating the expression of other genes in the body. How is it diagnosed? By using a specific stain, the red blood cells of someone affected by ATR-X syndrome have a golf ball-like appearance under the microscope which allows the diagnosis of ATR-X to be confirmed by a simple blood test in 85% of cases. Testing the DNA to look for the change (mutation) in the ATRX gene can confirm the diagnosis.
How is it treated? Boys affected by the condition require support in various areas to develop to their full potential. Infant stimulation, early intervention and special education are very important to encourage development. Alternative forms of communication, such as signing, PECS and Makaton may be used. Infantile hypotonia is common and is associated with difficulty sucking, so extra nutritional support may be needed (such as special teats and tube feeding into the stomach). Medications may be used to alleviate gastroesophageal reflux. Physical therapy may be needed to help movement and also relieve spasticity (tightness in muscle) if it occurs. The anaemia associated with alpha thalassaemia is usually mild and very few cases need treatment. Undescended testes should be monitored with scanning, as the testicles may become cancerous if left inside the abdomen.
Inheritance patterns and prenatal diagnosis Inheritance patternsThis condition is transmitted in an X-linked recessive manner. Affected families should be referred to a genetics centre for information and support. Prenatal diagnosisThis may be possible in some families where the mutation in the family has been identified.
Is there support? ATR-X Support Group Tel: 01606 44943Email: davidwalker825@btinternet.com The group offers support for people affected by Alpha Thalassaemia and their families. It links families where possible, and welcome calls from anyone with an interest in this condition. Group details last updated January 2016. There is a very active international Facebook page for affected families. It’s a closed group but can be reached at: https://www.facebook.com/groups/163849465337/