Batten disease is most definitively diagnosed by genetic testing, often as part of a panel of genetic tests used in children with epilepsy or unexplained seizures. Eye exams, blood or urine tests and skin sampling can often identify changes that signal Batten disease, which can then be confirmed with genetic testing.
Order a DNA test: Your provider collects a sample of blood or saliva from you or your child and sends the sample to a lab for testing. The lab studies the DNA for mutations (changes) in certain genes. A DNA test is the only way to confirm a Batten disease diagnosis.
Batten disease is a fatal, inherited disorder of the nervous system that typically begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10 years, when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures.
Possible diagnostic tests include: DNA analysis/genetic testing. DNA analysis can confirm the presence of one of the mutated genes that cause an NCL disease, as well as be used in prenatal diagnosis of the disease.
Juvenile NCL (Batten Disease) begins between the ages of 5 and 8. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s.
The onset of late infantile Batten disease is between ages two to four. The life expectancy is between ages eight to 10. Juvenile Batten disease occurs in children between ages five and 10. These patients usually live until their late teens or early 20s.
Visual impairment presents as the first symptom in more than 80% of cases of JNCL at a mean age of 5 years. Retinal examination often shows a bull's-eye maculopathy, temporal optic disc pallor, peripheral retinal pigment epithelial disturbance (including bone spicule formation), and retinal vascular attenuation.
Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis.
A child born to parents, who both carry the autosomal recessive mutation in the relevant gene, has a 25% (1 in 4) chance of inheriting the abnormal malfunctioning genes from both parents and developing a form of Batten disease.
Before birth.
Turner syndrome may be suspected from prenatal cell-free DNA screening or certain features may be detected on prenatal ultrasound screening. Prenatal diagnostic testing can confirm the diagnosis.
There's currently no known cure for any form of Batten disease, but the FDA approved an enzyme replacement therapy for CLN2 disease (TTP1 deficiency) called cerliponase alfa (Brineura) for one of the forms (CLN2 disease) in 2017. Symptoms like seizures can be improved with certain medications.
Batten disease (also known as neuronal ceroid lipofuscinosis, NCL) is the name for a group of inherited nervous system disorders that most often begin in childhood. They interfere with a cell's ability to recycle a cellular residue called lipofuscin.
In 2021, the gene therapy for Batten disease developed by New Zealand researchers – and funded by Cure Kids (and others) – received US FDA approval for clinical trials. The New Zealand researchers are hopeful that results for humans will be similar to what they have seen in sheep.
Some children die in early childhood, while others may be able to live into their teens or twenties. Worldwide, roughly 14,000 children are known to have Batten disease. In the U.S., it affects an estimated 2 to 4 out of every 100,000 children.
Autoantibodies to brain proteins are present in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) patients and the Cln3−/− mouse model of this disease, suggesting an autoimmune component to pathogenesis.
Classic Late Infantile: Onset 2-5 years – Life Expectancy: 8-12 years of age. Variant Late Infantile: Onset 2-5 years – Life Expectancy: 8-13 years of age.
Batten disease is named after the British pediatrician Frederick Batten, who first described it in 1903. Also known as Spielmeyer-Vogt-Sjögren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (NCL).
Turner syndrome (45,X), accounts for 1–2% of conceptions which typically miscarry early in the first trimester. Cases detected prenatally often present with cystic hygroma, which is an ultrasound marker for aneuploidy generally, but Turner syndrome particularly.
Even though the high risk of miscarriage probably sounds scary, researchers believe that the majority of miscarriages related to Turner syndrome occur in the first trimester.
Childhood dementia results from progressive brain damage and is caused by over 70 rare genetic disorders including Niemann-Pick type-C, Batten disease and Sanfilippo syndrome.
Batten Disease is an inherited genetic disorder in which the brain cells are missing an enzyme called tripeptidyl peptidase 1 (TPP1), which causes waste buildup in the cells' neurons. As a result, the cells gradually lose their function and die.
Epidemiology. Batten disease is the most common neurodegenerative disorder in childhood. It can result from mutations in 1-13 genes, and the worldwide prevalence of Batten disease is about 1 in 100,000 live births.