Low weight

People with SAS have low weight in 22% of cases. This can manifest both before and after birth, with slower-than-expected weight gain. On average, children with large chromosomal deletions have more frequent and severe issues with growth. About half of them are underweight. A minority of them have great difficulty maintaining a minimum weight, even while on tube feeding.
Based on metabolic findings, it has been hypothesised that there may be a lower capacity to utilize glucose as an energy substrate. Further research will have to shed more light on this or other causes of growth problems in SAS.

Management:
It is recommended that growth parameters are measured at each medical visit to evaluate growth.
SAS-specific growth curves have been published Growth in individuals with SATB2-associated syndrome - PubMed
When underweight, it’s important to have other possible causes ruled out by a pediatrician. In case of feeding difficulties, see the above section. A dietician can give valuable dietary advice. When tube feeding is considered, for some a blended diet may have advantages over standard enteral nutrition.

The content provided by this website is for educational, communication and information purposes only and is not intended to replace or constitute medical advice or treatments. Always consult with your licensed healthcare provider.

Frequently asked questions

Simple answers for families, supporters, and professionals who want to learn more about SAS and SATB2 Europe.

What is SATB2-associated syndrome?

SATB2-associated syndrome, or SAS, is a rare genetic neurodevelopmental condition caused by changes in the SATB2 gene. It can affect development, speech, learning, behavior, dental health, sleep, seizures, feeding, and bone health.

What are common signs of SAS?

Common features can include developmental delay, limited or absent speech, dental differences, feeding difficulties, sleep challenges, behavioral differences, seizures, and bone health concerns. Not every person has the same symptoms, and the severity can vary widely.

How is SAS diagnosed?

SAS is usually diagnosed through genetic testing. A diagnosis is made when a disease-causing change, deletion, duplication, or disruption involving the SATB2 gene is found. Families should discuss testing and results with a qualified medical professional or genetic counselor.

Is there a cure for SAS?

There is currently no simple cure for SAS. Care usually focuses on supporting development, communication, feeding, sleep, seizures, dental health, bone health, and other individual needs. Research and clinical guidance are important parts of improving future care.

How are donations used?

Donations help support SATB2 Europe’s work in family support, awareness, research collaboration, clinical guidance, and community-building for people affected by SAS.