Psychological symptoms and sleep disturbances in neuronal ceroid‐lipofuscinoses (NCL)

Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis

“…Behavioral and psychiatric problems in JNCL have also been described, including aggression, anxiety, depression, and hallucinations (Boustany and Filipek 1993, Lauronen et al 1999, Bäckman et al 2001. A partly retrospective survey of two JNCL groups reported many patients with aggression, mood disturbances, and hallucinations or delusions (Santavuori et al 1993). A recent study of Finnish children with JNCL was consistent with earlier reports: investigators found a large number of psychiatric problems in affected children (Bäckman et al 2005).…”

“…This perseverative style has been described previously in JNCL (Hofman et al 1999), but more work is needed to distinguish it from what is seen in many other conditions, including developmental delay, autism, and some psychiatric and neurological disorders (Bodfish et al 2000). Finally, some obsessive fears were apparently provoked by visual hallucinations, which have been previously reported in JNCL (Lanska and Lanska 1993, Santavuori et al 1993, Bäckman et al 2001. Cognitively impaired JNCL children may be unable to differentiate between frightening hallucinations and real events, and consequently may ruminate about these fearful perceptions, despite parental reassurances.…”

A clinical rating scale for Batten disease

“…1,2 Juvenile NCL (JNCL; NCL3, BattenSpielmeyer-Vogt disease), the most prevalent subtype, is characterized by progressive visual loss between 4 and 8 years of age, seizures, psychomotor decline, and behavioral abnormalities, with death occurring in the second or third decade of life. [3][4][5] A number of studies have focused on specific clinical features [6][7][8][9][10][11][12][13][14][15][16] or correlated such features with molecular, pathologic, or imaging characteristics. [17][18][19][20][21][22][23] Therapeutic studies have targeted specific symptoms rather than overall disease progression.…”

Neuronal ceroid-lipofuscinoses

“…Since then, the discovery of their molecular attributes has helped to create a biologically rational classification of the NCLs [2,3]. Table 1 shows the current classification that is likely to be updated in the near future as we better understand the pathophysiology and as more biologically 84 distinct genetic entities are added to the growing list of NCLs. The table broadly classifies NCLs into two categories: those caused by deficiencies of proteins (all of which happen to be enzymes) with defined functions and those caused by deficiencies of proteins with currently debated or unknown functions.…”

“…By late second to early third decades, the patients are nonambulatory. This is followed by death, usually within a year [39,40,[79][80][81][82][83][84][85][86][87][88][89]. At autopsy, the brain is small with a moderate to severe decrease in weight and grey and white matter atrophy.…”