The ADNP syndrome: when a fragment of DNA changes an entire life
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ADNP syndrome , or Helsmoortel-Van der Aa syndrome , is a rare neurodevelopmental disorder caused by a mutation in the ADNP ( Activity-Dependent Neuroprotective Protein ) gene.
First identified in 2014 by Helsmoortel and colleagues, it is now one of the known monogenic causes of autism and intellectual disability ( Frontiers in Neurology) . ) .
The ADNP gene was discovered by Professor Illana Gozes of Tel Aviv University, a pioneer in the study of this gene and in the development of a potential treatment (the NAP/CP201 peptide) ( Tel Aviv University ) .
2. The DNA gene: guardian of brain development
Main function : The ADNP gene codes for a key protein in brain growth and the regulation of over 400 other genes .
Discovery : Illana Gozes has shown that this gene plays a role in synapse formation , neuronal protection , and brain plasticity .
Link with other diseases : DNANP abnormalities are also implicated in tauopathies , such as Alzheimer's disease and other dementias ( Nature) . ) .
3. Symptoms of ADNP syndrome
Children with this condition present with a wide range of clinical variations. Among the most frequent signs are:
3.1 Development & Cognition
Language delay (sometimes absence of speech)
Autism spectrum disorders (approx. 90% of cases)
Intellectual disability of varying degrees
3.2 Neurology & Motor Skills
Hypotonia (lack of muscle tone)
Coordination disorders
Epilepsy (in some children)
3.3 General Health
Gastrointestinal disorders
Heart, kidney or endocrine problems (depending on the case)
Susceptibility to infections
3.4 Physical Characteristics
Distinctive facial features (broad forehead, flat nose, thin lips)
Very early dentition : one of the key markers, with the eruption of baby teeth as early as 12 months in a majority of children ( ADNP Kids Foundation) )
4. Diagnosis of ADNP syndrome
The diagnosis is based on:
Clinical observation : developmental delay, hypotonia, ASD.
Genetic confirmation :
Targeted sequencing (autism/neuro panel)
Whole-exome sequencing (WES)
Whole Genome Sequencing (WGS)
Laboratories and specialized centers :
Simons Searchlight centralizes cases and promotes international research ( Simons Searchlight) ) .
Resources also exist via NORD and Orphanet .
5. Support & Assistance
There is currently no curative treatment . Therefore, management is symptomatic and multidisciplinary .
Speech therapy : language stimulation or alternative communication (pictograms, tablets).
Psychomotor therapy & physiotherapy : improvement of fine and gross motor skills.
Medical follow-up : neurologist, gastroenterologist, cardiologist as appropriate.
Educational support : adapted school integration and individualized teaching strategies.
6. Research & Therapeutic Hopes
The future of ADNP syndrome depends on research.
Illana Gozes and her team are testing the NAP/CP201 peptide , which could restore certain cognitive and motor functions.
Clinical trials are underway, primarily in Israel and the United States ( ClinicalTrials.gov). ) .
ADNP Kids Research Foundation is the first global NGO dedicated to funding this research ( ADNP Foundation) ) .
7. Daily life & personal accounts
Families often describe a long journey before diagnosis, followed by a mixture of relief and fear in the face of uncertainty.
Example (testimony from Autism Speaks):
“For years, our son had no diagnosis. When we learned it was ADNP, we were finally able to turn to associations, understand his needs, and above all, join a supportive community.”
8. Useful resources for families
9. Conclusion
ADNP syndrome is rare but increasingly recognized thanks to advances in research. The work of Illana Gozes paves the way for a potential innovative treatment (CP201).
In the meantime, families can find crucial support from associations, foundations and the scientific community.
