Neurodevelopmental disorders can affect how the brain and body develop and function. One rare and complex condition is Neurodevelopmental Disorder with Alopecia and Brain Abnormalities (NDAB). Affected individuals have a distinctive type of hair loss (alopecia), global developmental delay, low muscle tone (hypotonia), nonspecific abnormal physical characteristics (dysmorphic features) and behavioral abnormalities. There is no cure for the disorder, but research is underway to better understand and treat this disease. Current treatment is aimed at the specific symptoms present in each individual.[rx]
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities, often abbreviated as NDAB, is a rare genetic disorder. It impacts brain development and can result in various symptoms, including hair loss (alopecia). Let’s break down the key aspects of NDAB:
Types of NDAB:
There is one primary type of NDAB, and it is associated with a specific genetic mutation. This mutation is responsible for the disorder’s characteristic symptoms.
Causes of NDAB:
NDAB is primarily caused by a genetic mutation in a specific gene. This gene mutation affects how the brain develops and can lead to alopecia (hair loss). It is not caused by external factors or lifestyle choices.
BABS is caused by changes (pathogenic variants or mutations) in the ornithine decarboxylase (ODC1) gene that are located at one end of the gene, the C terminus. Genes provide instructions for creating proteins which play a critical role in many bodily functions. Pathogenic variants in the ODC1 gene that cause BABS result in an elevated level of ODC protein followed by an increased conversion of ornithine to putrescine and increased accumulation of putrescine in the cells. These are called gain-of-function pathogenic variants.[rx]
The penetrance of pathogenic variants in the ODC1 gene is believed to be 100%, meaning that any person who has a pathogenic change in one copy of their ODC1 gene is expected to develop the associated signs and symptoms. It is unclear whether variations in different portions of the gene or variants resulting in loss-of-function of specific proteins may cause other symptoms.
BABS is inherited in an autosomal dominant pattern. Genetic conditions inherited in a dominant pattern occur when an individual has a pathogenic variant in one of their copies of a particular gene. Thus far, all reported patients whose parents have undergone molecular genetic testing have BABS as the result of a de novo, or new pathogenic variant that was not inherited. Each child of an individual with BABS has a 50% chance of inheriting the ODC1 pathogenic variant. To date, no individuals with BABS have reproduced and many are not yet of reproductive age.[rx]
Symptoms of NDAB:
- Alopecia (Hair Loss): Individuals with NDAB often experience hair loss, which can range from partial to complete baldness.
- Brain Abnormalities: Abnormalities in the brain’s structure or function can lead to developmental delays, intellectual disabilities, and behavioral challenges.
- Seizures: Some individuals with NDAB may experience seizures, which are abnormal electrical activities in the brain.
- Developmental Delays: Children with NDAB may achieve developmental milestones, such as walking and talking, at a slower rate than their peers.
- Intellectual Disabilities: NDAB can lead to cognitive impairments, affecting an individual’s ability to learn and solve problems.
- Behavioral Issues: Emotional and behavioral problems, such as hyperactivity or aggression, may be present.
- Speech and Language Problems: Difficulty with speech and language development is common in individuals with NDAB.
- Movement Disorders: Some individuals may have problems with coordination and motor skills.
- Vision and Hearing Issues: Sensory impairments, including vision and hearing problems, may be associated with NDAB.
- Sleep Disturbances: Irregular sleep patterns or difficulty sleeping can occur.
- Alopecia – hair is typically present at birth but is sometimes sparse and atypical in color; hair loss in clumps begins in the first few weeks of life; there is typically congenital absence or sparseness of eyebrows and eyelashes; some individuals regrow scalp hair that usually remains sparse.
- Dysmorphic features have been identified in most affected individuals but not with any specific pattern or consistency.
- Moderate to severe global developmental delay – walking was achieved between ages 17 months and 4 years and first words were said between ages 3 and 6 years. Some individuals have not yet achieved these milestones at the time of this report.
- Hypotonia
- Behavior concerns – attention-deficit/hyperactivity disorder, autism spectrum and aggression have all been reported.
- Skin findings – Dry, rough patches and bumps on skin (keratosis pilaris), recurrent follicular cysts and dry skin have been reported.
- Feeding concerns and constipation.
- Large head (macrocephaly) and nonspecific brain MRI findings.
- Too much amniotic fluid during pregnancy (prenatal polyhydramnios).[rx]
Diagnostic Tests for NDAB:
- Genetic Testing: The most definitive method for diagnosing NDAB is through genetic testing, which can identify the specific gene mutation responsible for the disorder.
- Brain Imaging: Imaging techniques like MRI and CT scans can reveal structural abnormalities in the brain.
- Clinical Evaluation: A thorough assessment by a medical professional can help identify developmental delays, intellectual disabilities, and physical symptoms associated with NDAB.
Treatments for NDAB:
- Supportive Care: Treatment for NDAB primarily involves providing supportive care to manage symptoms and improve the individual’s quality of life.
- Physical Therapy: Physical therapy can help with motor skill development and coordination.
- Speech and Language Therapy: This therapy assists in improving communication skills.
- Behavioral Interventions: Behavioral therapy and counseling can address emotional and behavioral issues.
- Seizure Management: Medications may be prescribed to manage seizures.
- Educational Support: Tailored educational programs can help individuals with NDAB reach their full potential.
Drugs for NDAB:
There are currently no specific drugs designed exclusively for treating NDAB. However, medications may be prescribed to manage specific symptoms or complications, such as:
- Antiepileptic Drugs: These drugs help control seizures in individuals with NDAB.
- Behavioral Medications: Medications for behavioral problems, such as ADHD medications, may be considered.
- Symptomatic Treatment: Medications may be used to address specific symptoms, such as sleep disturbances or anxiety.
Conclusion:
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities (NDAB) is a rare genetic disorder that affects brain development and can lead to a range of symptoms, including hair loss. While there are no specific drugs to treat NDAB, supportive care, therapies, and medications to manage symptoms can significantly improve an individual’s quality of life. A diagnosis is typically made through genetic testing and clinical evaluation. Understanding NDAB is essential for families and healthcare providers to provide the best possible care and support for affected individuals.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. Thank you for giving your valuable time to read the article.