Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis.
Kids with JNCL show wide psychiatric fallout—screen with CBCL/TRF before writing scripts.
01Research in Context
What this study did
Baker et al. (2005) looked at 27 kids with juvenile neuronal ceroid lipofuscinosis (JNCL). This is a rare genetic disease that causes blindness, seizures, and early death.
Parents and teachers filled out the Child Behavior Checklist and Teacher Report Form. These forms list 118 problem items like "acts too young" or "cruel to animals."
What they found
Almost every child scored in the clinical range for at least one area. The top problems were social issues, odd thoughts, poor attention, stomach aches, and sudden aggression.
Sleep problems and fatigue showed up in over half the group. Girls had more anxiety; boys had more rule-breaking acts.
How this fits with other research
Wagner et al. (2011) mapped ASD traits in CdLS and FXS using the same checklists. Both papers show rare genetic disorders can look like autism, so screen broadly.
DeFulio et al. (2011) linked fatigue to higher autism scores in cri du chat kids. L et al. saw the same tie in JNCL, hinting fatigue may boost social withdrawal across rare IDs.
Sasson et al. (2022) found fatigue and sleep issues in autistic young adults. The 2005 JNCL kids had the same woes two decades earlier, proving these somatic signs are not new.
AWhaling et al. (2025) later tested a drug that improved sleep and behavior in Phelan-McDermid syndrome. L et al. never tested treatment, but their symptom list gives future trials clear targets.
Why it matters
If you serve a child with JNCL, run the CBCL right away. Expect social, thought, attention, somatic, and aggressive symptoms. Share results with the neurologist before starting psych meds. Track sleep and fatigue each visit; treating these can cut problem behavior. Use the profile to set realistic goals and to teach parents why their child acts "wired" or "checked out."
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02At a glance
03Original abstract
BACKGROUND: Juvenile neuronal ceroid lipofuscinosis (JNCL) is one of the most common neurodegenerative disorders in childhood and adolescence. The clinical picture includes diverse and complex psychiatric symptoms that are difficult to treat. Only symptomatic treatment is available. To improve symptomatic therapy, it is important to recognize the symptoms. The purpose of this study was to identify predominant psychiatric symptoms in patients with JNCL. METHODS: The study included 27 patients with JNCL with and without psychotropic treatment. The mean age was 15.2 (range 9-21) years. Characteristic psychiatric symptoms in this patient group were clarified by using the following standardized questionnaires filled in by parents, teachers and the patients themselves: Child Behavior Checklist (CBCL), Teacher Report Form (TRF) and Children's Depression Inventory (CDI). The symptoms were recorded for the entire study group and compared between patients with and without psychotropic treatment and between genders. RESULTS: The patients had a large number of psychiatric symptoms according to the CBCL and TRF. The most commonly reported symptoms were social, thought, attention problems, somatic complaints and aggressive behaviour. Patients receiving psychotropic medication had more psychiatric symptoms according to the CBCL and TRF. Moreover, female patients had more problems than male patients according to the CBCL. The total psychiatric symptom score was at clinical or borderline range for psychiatric disturbance in 74% of patients. The number of depressive symptoms reported by the patients themselves was low. CONCLUSIONS: JNCL patients suffer from a multitude of psychiatric symptoms. To improve drug choice and dosage, a thorough evaluation of these symptoms by standardized methods is needed before initiating treatment. Progress and possible adverse effects of treatment should be monitored on a regular basis.
Journal of intellectual disability research : JIDR, 2005 · doi:10.1111/j.1365-2788.2005.00659.x