Summary about Disease
X-linked intellectual disability Nascimento type (XLID Nascimento type) is a rare genetic disorder primarily affecting males. It is characterized by intellectual disability, distinctive facial features, skeletal abnormalities, and other congenital anomalies. The severity of symptoms can vary among affected individuals.
Symptoms
Symptoms of XLID Nascimento type can include:
Intellectual disability (ranging from mild to severe)
Distinctive facial features (e.g., prominent forehead, hypertelorism, broad nasal bridge, thick lips)
Skeletal abnormalities (e.g., joint contractures, scoliosis, foot deformities)
Short stature
Genital anomalies (e.g., cryptorchidism)
Seizures
Feeding difficulties
Causes
XLID Nascimento type is caused by mutations in the SYP gene, located on the X chromosome. This gene provides instructions for making a protein called synaptophysin, which is important for the function of synapses in the brain. Mutations in *SYP* disrupt the normal function of synaptophysin, leading to impaired brain development and function. Being an X-linked condition, males (who have only one X chromosome) are typically more severely affected than females (who have two X chromosomes).
Medicine Used
There is no specific cure for XLID Nascimento type. Treatment focuses on managing the individual's specific symptoms and providing supportive care. This may include:
Anticonvulsants: For managing seizures.
Physical therapy: To improve motor skills and range of motion.
Occupational therapy: To improve daily living skills.
Speech therapy: To improve communication skills.
Nutritional support: To address feeding difficulties.
Orthopedic interventions: For skeletal abnormalities.
Is Communicable
No, XLID Nascimento type is not communicable. It is a genetic disorder caused by a mutation in the SYP gene and cannot be transmitted from person to person.
Precautions
Since XLID Nascimento type is a genetic condition, there are no specific precautions to prevent it from developing in an affected individual who has inherited the causative mutation. Genetic counseling and testing can be offered to families with a history of the condition to assess the risk of recurrence. General precautions relate to managing associated symptoms and providing appropriate supportive care (e.g., seizure precautions, fall prevention).
How long does an outbreak last?
This disease is not infectious and does not have outbreaks.
How is it diagnosed?
Diagnosis of XLID Nascimento type typically involves:
Clinical evaluation: Assessment of the individual's symptoms and physical characteristics.
Genetic testing: Sequencing of the SYP gene to identify mutations.
Imaging studies: Such as X-rays, to evaluate skeletal abnormalities.
Developmental assessment: To evaluate intellectual and adaptive functioning.
Timeline of Symptoms
The timeline of symptoms can vary, but generally:
Infancy: Some features may be present at birth, such as distinctive facial features or skeletal abnormalities. Feeding difficulties and developmental delays may become apparent in infancy.
Childhood: Intellectual disability becomes more evident as the child misses developmental milestones. Seizures may begin in childhood.
Adulthood: Symptoms persist throughout adulthood. The severity of symptoms can vary.
Important Considerations
Genetic counseling: Is essential for families with XLID Nascimento type to understand the inheritance pattern and recurrence risk.
Multidisciplinary care: Affected individuals require a team of specialists, including pediatricians, neurologists, geneticists, therapists, and other healthcare professionals, to provide comprehensive care.
Individualized education plan (IEP): Children with XLID Nascimento type may benefit from an IEP to address their specific learning needs.
Support groups: Connecting with other families affected by XLID Nascimento type can provide valuable support and information.
Research: Ongoing research aims to better understand the underlying mechanisms of XLID Nascimento type and develop new treatments.