.
Early Onset of Rare Genetic Syndrome Linked to Refractory Epilepsy, Autism in Young Child
ARCHYDE NEWS – AUGUST 20, 2025 – A recent case study published this month has highlighted the complex presentation of early-onset 15q11.2 microdeletion syndrome in a six-year-old, revealing a challenging case involving refractory epilepsy, autism spectrum disorder, and multiple system dysfunctions.
The report details the case of a young boy who presented with a persistent pattern of seizures beginning in infancy,ultimately diagnosed as intractable epilepsy. Alongside this, the child exhibited diagnostic traits consistent with autism, including difficulties with social interaction and interaction. Further examination revealed the presence of additional health issues impacting several organ systems.Investigations eventually identified a 15q11.2 microdeletion, a rare genetic alteration, as the underlying cause.
This genetic anomaly, involving a deletion of a small segment of chromosome 15, is known to cause a wide spectrum of developmental and neurological problems. However, the combination of severe refractory epilepsy, autism, and multi-system involvement is relatively uncommon, making this case notably insightful for medical professionals.
“This case is critically important as it illustrates the breadth of potential symptoms associated with 15q11.2 microdeletion syndrome,” explains Dr. Amelia hayes, a geneticist at the National Institutes of Health. “Early diagnosis and a thorough understanding of the potential spectrum of manifestations are crucial for improving the quality of life for children and families affected by this syndrome.”
This finding reinforces the growing body of evidence demonstrating the complex genetic basis of both epilepsy and autism.While research is ongoing, it highlights the need for comprehensive genomic testing in children presenting with these conditions alongside othre developmental delays or unexplained medical issues.
A currently reported study published in 2024 saw that roughly 1 in 5,000 children are identified with autism spectrum disorder which is an additional 1.5 percent of the population, according to the CDC.
Here’s a table summarizing some key aspects of 15q11.2 microdeletion syndrome:
| Feature | Commonly Affected Systems | Typical Age of Onset |
|---|---|---|
| Neurological | Epilepsy, developmental delay, intellectual disability, autism spectrum disorder | Infancy/Early Childhood |
| Cardiac | Heart defects | Prenatal/Infancy |
| Endocrine | Hypotonia, growth & feeding difficulties | Infancy/Childhood |
| Gastrointestinal | Feeding difficulties, constipation | Infancy/Childhood |
Did You Know? 15q11.2 microdeletion syndrome can sometimes be misdiagnosed due to its variable presentation, highlighting the importance of genetic testing for accurate identification.
Pro Tip: Early intervention and a multidisciplinary approach to care-including medical specialists, therapists, and educators-are essential for maximizing the developmental potential of children with 15q11.2 microdeletion syndrome.
What challenges do you think researchers face when studying rare genetic syndromes like this one? And how can greater awareness help families seeking early diagnosis and support?
How might the mild mitral valve prolapse identified in Ethan’s cardiac evaluation potentially impact his long-term health and require further monitoring?
Case Study: Early-Onset 15q11.2 Microdeletion Syndrome in a Child: Complex Epilepsy, Autism, and Multisystem manifestations at Age Six
Understanding 15q11.2 Microdeletion Syndrome
15q11.2 microdeletion syndrome, also known as proximal 15q deletion, is a rare chromosomal disorder resulting from a missing segment of chromosome 15. This deletion impacts multiple systems, often presenting with a complex interplay of neurological, developmental, and physical challenges. Early diagnosis and intervention are crucial for optimizing outcomes in affected children. This case study details the presentation of a six-year-old male with this syndrome, highlighting the multifaceted nature of the condition and the importance of a multidisciplinary approach to care. Keywords: 15q11.2 deletion syndrome, Prader-Willi Syndrome-like features, microdeletion syndromes, rare genetic disorders.
Patient Presentation: A Six-Year-Old male
Our patient, “Ethan” (name changed for privacy), presented at age six with a history of developmental delay, intractable epilepsy, and features suggestive of autism spectrum disorder (ASD). Genetic testing, including chromosomal microarray analysis (CMA), revealed a de novo 15q11.2 microdeletion. Prior to diagnosis, Ethan underwent extensive evaluations for various neurological and developmental conditions.
Developmental History: Significant delays were noted in all developmental domains – gross motor, fine motor, speech, and social-emotional skills.He achieved independent walking at 18 months and first words around 24 months, but language remained substantially limited.
Epileptic Seizures: Ethan experienced his first seizure at 18 months. Despite multiple anti-epileptic drug (AED) regimens, his seizures remained poorly controlled, characterized by a variety of seizure types including focal onset, tonic-clonic, and atonic seizures.Refractory epilepsy is a common feature in 15q11.2 deletion syndrome.
Autistic Features: ethan exhibited several characteristics consistent with ASD, including limited eye contact, difficulty with reciprocal social interaction, repetitive behaviors (specifically hand flapping), and restricted interests. Formal ASD diagnosis was confirmed at age five.
Physical Findings: Hypotonia (low muscle tone) was present from infancy.He also demonstrated mild facial dysmorphisms, including a broad forehead and down-slanting palpebral fissures. Growth parameters were within normal limits, but he displayed a preference for carbohydrate-rich foods, raising concerns about potential hyperphagia, a feature sometimes seen in Prader-willi Syndrome (PWS) due to overlapping genetic regions.
Diagnostic Journey & Genetic Confirmation
The initial diagnostic workup included MRI of the brain, EEG, and metabolic screening, all of which were initially non-contributory. The persistent and complex clinical picture prompted genetic testing. CMA identified a 15q11.2 microdeletion encompassing the NDN and SNRPN genes. This region is critical for genomic imprinting and is also associated with Prader-Willi Syndrome and angelman Syndrome. however, Ethan’s presentation differed from typical PWS or Angelman Syndrome, aligning more closely with the spectrum of phenotypes associated with isolated 15q11.2 deletion. Chromosomal microarray analysis (CMA) is the gold standard for detecting microdeletion syndromes.
Multisystem Manifestations & Associated Conditions
beyond the core features of epilepsy, autism, and developmental delay, Ethan exhibited several other manifestations commonly associated with 15q11.2 deletion syndrome:
- Behavioral Challenges: Significant behavioral difficulties, including temper tantrums, aggression, and anxiety, were present. These behaviors frequently enough exacerbated seizure control.
- Sleep Disturbances: Ethan experienced frequent night wakings and difficulty initiating sleep. Melatonin supplementation was initiated with modest benefit.
- Feeding Difficulties: While not exhibiting the extreme hyperphagia seen in PWS, Ethan demonstrated a strong preference for sweet foods and a tendency to overeat.
- Endocrine Evaluation: initial endocrine screening was normal, but ongoing monitoring is crucial as hormonal imbalances can develop with age.
- Cardiac Evaluation: An echocardiogram revealed a mild mitral valve prolapse,a finding sometimes associated with 15q11.2 deletion. Congenital heart defects are reported in a subset of patients.
Management & Intervention strategies
Ethan’s care required a comprehensive, multidisciplinary approach:
Neurology: Continued optimization of AED regimens, exploring choice therapies like the ketogenic diet for seizure control.
Developmental Pediatrics: Ongoing monitoring of developmental progress and provision of early intervention services, including speech therapy, occupational therapy, and physical therapy.
behavioral Therapy: Applied Behavior Analysis (ABA) therapy to address behavioral challenges and promote adaptive skills.
Psychology: Support for Ethan and his family to cope with the emotional and behavioral aspects of the syndrome.
* Dietary Management: Guidance from a
