Kleefstra syndrome is a rare genetic disorder estimated to affect 1:25,000 to 1:35,000 individuals, although the number may be higher as many individuals do not get diagnosed.
What is Kleefstra Syndrome?
Kleefstra syndrome is a genetic disorder that primarily affects the nervous system and other parts of the body. It was first identified in 2009 by Dutch geneticist Dr. Tjitske Kleefstra, after whom the syndrome is named. Individuals with Kleefstra syndrome often have developmental delays, intellectual disabilities, and various physical and behavioral issues.
The Genetics Behind Kleefstra Syndrome
Kleefstra syndrome is usually caused by a mutation or deletion on chromosome 9, specifically in a region known as 9q34.3. This region contains a gene called EHMT1. The role of EHMT1 is to produce an enzyme, histone methyltransferase 1, that controls the activity of other genes in the body. When one copy of EHMT1 loses its function, it affects a large number of other genes involved in development and functioning of organs and tissues throughout the body.
Kleefstra syndrome is rarely passed from a parent to their child. It usually happens sporadically, with no family history of the disease. This happens because the genetic changes are de novo, which means new mutations or deletions. Individuals with Kleefstra syndrome have one standard copy of EHMT1 and one that does not work or is deleted. This means they have a 50% chance of passing the condition on with each pregnancy.
Recognizing the Symptoms of Kleefstra Syndrome
Symptoms of Kleefstra syndrome can vary widely from person to person, but there are some common features. These symptoms can be grouped into physical, developmental, and behavioral categories.
Physical Symptoms
Facial Features: Individuals with Kleefstra syndrome often have distinctive facial features, such as a flat face, a short nose, a wide mouth, and thick eyebrows.
Low Muscle Tone: Many affected individuals have hypotonia, meaning their muscles are weaker and less toned than usual.
Heart Defects: Some people with Kleefstra syndrome may have congenital heart defects.
Feeding Difficulties: Infants might struggle with feeding due to poor muscle tone or other complications.
Developmental Symptoms
Intellectual Disability: Most individuals with Kleefstra syndrome have some degree of intellectual disability, which can range from mild to severe.
Delayed Development: Children with this syndrome often experience delays in reaching milestones like sitting, walking, and talking.
Speech and Language Issues: Speech can be significantly delayed, and some individuals might never develop spoken language, relying instead on alternative communication methods.
Behavioral Symptoms
Autistic Features: Many individuals exhibit behaviors commonly associated with autism spectrum disorder, such as difficulties with social interactions and repetitive behaviors.
Sleep Disturbances: Sleep problems are common and can include difficulty falling asleep, staying asleep, or irregular sleep patterns.
Seizures: Some people with Kleefstra syndrome may experience seizures or epilepsy.
Diagnosing Kleefstra Syndrome
If a doctor suspects Kleefstra syndrome, they will likely recommend genetic testing to confirm the diagnosis. This involves taking a blood sample and analyzing the individual's DNA to look for the characteristic deletion or mutation in the EHMT1 gene.
Early diagnosis is crucial because it allows for early intervention, which can improve outcomes and help manage symptoms more effectively.
Managing and Treating Kleefstra Syndrome
While there is currently no cure for Kleefstra syndrome, there are various ways to manage and treat its symptoms. Treatment plans are tailored to each individual's specific needs and may include:
Early Intervention: Programs that focus on speech therapy, physical therapy, and occupational therapy can help children develop essential skills and improve their quality of life.
Educational Support: Necessary support for children with Kleefstra syndrome to succeed in school is needed, with the teachers being made aware of the child's condition.
Medical Care: Regular check-ups with various specialists, such as cardiologists, neurologists, and geneticists, can help monitor and manage health issues associated with the syndrome.
Behavioral Therapy: Techniques such as Applied Behavior Analysis (ABA) can help address behavioral challenges and promote positive behaviors.
Medications: In some cases, medications may be prescribed to manage symptoms like seizures, sleep disturbances, or behavioral issues.
Living with Kleefstra Syndrome
Living with Kleefstra syndrome presents unique challenges, but with the right support and resources, individuals with the condition can lead fulfilling lives. Support groups and organizations dedicated to Kleefstra syndrome can be valuable resources for families, providing information, advocacy, and a sense of community.
References:
Kleefstra, T. (2023) Kleefstra syndrome, GeneReviews® [Internet]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK47079/#:~:text=Based%20on%20incidence%20estimates%20of,%3B%20Author%2C%20personal%20observation%5D
-Written by Sohni Tagore
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