Hi all carers with ASD family members. My son had diagnosis of ASD. I insisted on more testing and he had whole genome sequencing. They found mutation in AHDC1 gene. The researchers in US say the syndrome has significant overlap with ASD and they think many ASD patients and those with learning difficulties remain without diagnosis. Particularly older ones
The website for the condition is below. I have always believed my sons ASD had a genetic explanation and we got one. There are only 230 patients so far diagnosed but researchers in US think there are many thousands without diagnosis, because of lack of awareness.
https://xia-gibbs.org/xia-gibbs-syndrome/
Symptoms so far known are:
Global developmental delay (reaching developmental milestones later than usual)
Intellectual disability (which affect a person’s ability to learn, communicate and retain information and undertake daily living activities)
Hypotonia (low muscle tone)
Respiratory difficulties, such as laryngomalacia (airway obstruction caused by floppy tissue)
Sleep apnea (pauses in breathing during sleep)
Brain changes (these are visible on an MRI scan)
Some characteristic facial features
Scoliosis (sideways curvature of the spine)
Seizures
Significant overlap with autism spectrum disorders
The website for the condition is below. I have always believed my sons ASD had a genetic explanation and we got one. There are only 230 patients so far diagnosed but researchers in US think there are many thousands without diagnosis, because of lack of awareness.
https://xia-gibbs.org/xia-gibbs-syndrome/
Symptoms so far known are:
Global developmental delay (reaching developmental milestones later than usual)
Intellectual disability (which affect a person’s ability to learn, communicate and retain information and undertake daily living activities)
Hypotonia (low muscle tone)
Respiratory difficulties, such as laryngomalacia (airway obstruction caused by floppy tissue)
Sleep apnea (pauses in breathing during sleep)
Brain changes (these are visible on an MRI scan)
Some characteristic facial features
Scoliosis (sideways curvature of the spine)
Seizures
Significant overlap with autism spectrum disorders