Neurodevelopmental disorders are a group of disorders which affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory. SATB2 associated syndrome (SAS) is one such neurodevelopmental disorder. It is caused due to de-novo mutation, a novel alteration in a gene located on chromosome 2q32-q33. The SATB2 gene is responsible for encoding proteins of around 700 amino acids, which help in the regulation of neural and cortical brain development. The mutation causes hindrance in the neurological development leading to intellectual disability, communication deficits and various other behavioural problems. The use of following acronym has been proposed to classify the striking features of the disorder;
S- Severe speech anomalies
A- Abnormalities of the Palate
T- Teeth Anomalies
B- Behavioural issues with or without Brain MRI anomalies
2- age of onset before 2 years.
Although this was a good starting point, each of these characteristics had to be defined in a more holistic way to be useful for both parents as well as clinicians around the world. Researchers like Dr. Yuri A. Zatare and his team explored the genetic side, while the researchers at the University of Birmingham focused on the behavioural characteristics within the syndrome.
This syndrome is characterized by severe intellectual disability, developmental delay, osteoporosis; a condition in which the density and quality of bone decreases as well as craniofacial abnormalities, i.e. problems with the skull structure. Some of the common behaviour includes high rates of physical aggression coupled with usually “jovial” personality, poor eye contact, stereotyped repetitive behaviour and developmental delay. As the disorder is becoming familiar in the neurodevelopmental landscape, the earlier diagnosis helps in mitigating the craniofacial abnormalities by simple surgeries and also starting the interventions for speech, self-help skills and behavioural therapies earlier.
One of the most striking observations from the recent research in SATB2 includes the shared characteristics between SATB2 associated syndrome and other neurodevelopmental disorders like Autism Spectrum Disorder and Angelman syndrome. Similar profiles of reciprocal social interaction, repetitive behaviours, mood and pleasure, impulsivity and overactivity was shared between SATB2 syndrome and Angelman syndrome whereas similar profiles in terms of compulsive behaviour, insistence on sameness, restricted preferences, prevalence of challenging behaviour were shared between SATB2 syndrome and ASD. This overlap in behavioral characteristics helps clinicians and therapists in modifying and fine-tuning the treatment plans instead of starting over with nothing.
With continuous increase in our knowledge, these overlap in behavioural characteristics is not uncommon and gives us an advantage in tackling these problems in a comprehensive manner instead of fighting them at an individual level in various syndrome groups. On the other hand, some of these disorders are just being discovered and new research does help in understanding the specifics. The already existing infrastructure can be expanded to be an inclusive unit for all children and parents who suffer from these neurodevelopmental disorders. Different wings and treatment programs aiming communication skills, emotion regulation, challenging behaviour etc. can make a dynamic atmosphere where the parents along with trained staff can decide the priorities in which these problems should be tackled and worked upon. Thus, making sure each child gets the most optimal treatment despite their tags of SATB2, Angelman, Autism, Sotos, Prader-Willi syndrome or any other disorder we discover as we move forward with identifying new anomalies in genetics and other neurodevelopmental disorders.
Vishakha Kothari
