SIGNS AND SYMPTOMS
R(14) can result in a number of different symptoms. These symptoms are common in many other disorders as well.
Symptoms include:
Intellectual disability
Epilepsy
All people with r(14) have epilepsy, which causes seizures. Most of the time, people with r(14) have a type of epilepsy called early onset refractory epilepsy. In this type of epilepsy, seizures are hard to control. Seizures that begin earlier and are more severe may result in more disability. They can also increase the probability of autism spectrum disorder.
Seizures in r(14):
- Usually appear in the first few months of life
- Are focal, with or without secondary generalization
- Usually occur when waking up or falling asleep
- Sometimes occur in clusters that last a day or more
- Include long “status epilepticus” seizures lasting more than 5 minutes in about half of patients
- Are usually worse when younger and often get better by late adolescence
- Can cause a loss of other skills
Trouble walking
Infection
Autism spectrum disorder (ASD)
Many children with r(14) have traits of ASD, such as:
- Aimless or repetitive motor movements
- Need for routine
- Sensory sensitivities, like a sensitivity to texture or noise
Characteristic facial features
Low muscle tone
Also called hypotonia.
Small head size
Also called microcephaly.
LAB INVESTIGATIONS
R(14) can only be diagnosed through genetic testing. The main type of genetic test used is called a karyotype test. A karyotype test can look to see if there is a ring on the 14th chromosome.
Other tests usually given to children with r(14) include:
- Eye exams.
- Electroencephalogram (EEG). EEGs can measure the electrical activity of the brain. They can be helpful in detecting seizures. EEGs may be repeated periodically.
- Neuropsychological evaluations.
TREATMENT AND THERAPIES
Treatment may vary based on the severity of the disorder. R(14) is a lifelong condition with no specific cure. Therefore, treatments are focused on improving symptoms.
Team Approach
Using multidisciplinary treatment teams is the best approach to treating r(14). A treatment team is made up of a number of different specialists. Treatment teams for r(14) may include:
- Pediatricians
- Child neurologists
- Gastroenterologists
- Nutritionists
- Rehabilitation physicians
- Pulmonologists, or lung doctors
- Ophthalmologists, or eye doctors
- Therapists who specialize in speech, physical, and occupational therapies
Treating Symptoms
A few symptoms of r(14) that can be treated include:
Epilepsy
Low muscle tone
Vision and hearing issues
Malnutrition
Children with r(14) are at a high risk for malnutrition. They need close attention from nutritionists. A nutritionists can monitor weight closely and add supplements to the diet when needed. Speech therapists can also help. They can ensure the child can swallow safely. A gastrostomy tube may eventually be needed.
Communication and speech challenges
Family and Caregiver Support
Taking care of a child with a rare and complex syndrome is challenging. R(14) can have impact not only on a child but also parents and siblings. Families might need strong support. This can include:
- Attention and time given to unaffected sibling
- Peer support groups for those whose lives are affected by r(14)
Resources
Ring14 USA
Ring14 USA is a non-profit organization founded by a group of mothers whose children have Ring14 syndrome. They advocate for all those affected by the rare neurodevelopmental disorders of the 14th chromosome, in particular Ring14 syndrome. From the children who suffer from the symptoms to all the doctors, caregivers, friends, and family who help to care for these fragile children. Ring14’s vision is to create a brighter future for these children by finding targeted treatments and therapies which will enable them to reach their full potential and live their best life. They have created a supportive community for the Ring14 families, so that no one faces these challenges alone. Ring14 USA hosts the Ring14 USA private Facebook group which has over 100 members.
Research efforts are organized through Ring14 International, a worldwide nonprofit organization that functions as a coordinating network for the various national Ring14 chapters which all share the same objectives. The main goals of Ring14 International is to support and promote, on an international level, medical and scientific research regarding the syndromes of the 14th chromosome. Ring14 International consists of the established chapters in Italy and USA and new chapters in France, Spain, Netherlands, and Belgium with more opening in the future. Ring14 International hosts the Chromosome Ring 14 International private Facebook group with over 400 members.
Child Neurology Foundation (CNF) solicits resources from the community to be included on this webpage through an application process. CNF reserves the right to remove entities at any time if information is deemed inappropriate or inconsistent with the mission, vision, and values of CNF.
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