Friday, 10 November 2017

IDIC-15, Chromosome 15q, - DUP 15q syndrome.

Isodicentric chromosome 15 syndrome is a developmental disorder with a broad spectrum of features. The signs and symptoms vary among affected individuals.
Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking.

Babies with isodicentric chromosome 15 syndrome often have trouble feeding due to weak facial muscles that impair sucking and swallowing; many also have backflow of acidic stomach contents into the esophagus (gastroesophageal reflux). These feeding problems may make it difficult for them to gain weight.

Intellectual disability in isodicentric chromosome 15 syndrome can range from mild to profound. Speech is usually delayed and often remains absent or impaired. Behavioral difficulties often associated with isodicentric chromosome 15 syndrome include hyperactivity, anxiety, and frustration leading to tantrums. Other behaviors resemble features of autistic spectrum disorders, such as repeating the words of others (echolalia), difficulty with changes in routine, and problems with social interaction.

About two-thirds of people with isodicentric chromosome 15 syndrome have seizures. In more than half of affected individuals, the seizures begin in the first year of life.

About 40 percent of individuals with isodicentric chromosome 15 syndrome are born with eyes that do not look in the same direction (strabismus). Hearing loss in childhood is common and is usually caused by fluid buildup in the middle ear. This hearing loss is often temporary. However, if left untreated during early childhood, the hearing loss can interfere with language development and worsen the speech problems associated with this disorder.

Today's family travelled from central Europe to see us with their beautiful 15 month old little girl. She has IDIC-15 which occurs in around 1 in 30,000 births. This was her second assessment, the first one having been a distance assessment, so she has been doing the Snowdrop programme for 6 months. Despite the genetic disorder trying to slow down development, she had made many gains, in visual development, where she is now looking at pictures in a book, auditory development where she is now understanding a few words. In gross motor development she is on the verge of crawling and she is actually moving herself forward. We also see improved hand function and socialisation. Well done to a mum and dad who travelled such a long way and who have worked so hard to fight a genetic condition which is working to stop development. To make gains despite this is truly remarkable.

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