Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (batten disease)

Journal of Child Neurology

Volumn 28, Issue 9, 2013, Pages 1128-1136

  Adams, Heather R ^a   Mink, Jonathan W ^a  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

behavior; cognition; neuropsychology; quality of life; Unified Batten Disease Rating Scale

Indexed keywords

ADAPTIVE BEHAVIOR; ANXIETY DISORDER; ARTICLE; CHILD BEHAVIOR; COGNITION; DEPRESSION; DISEASE COURSE; FAMILY CONFLICT; FAMILY FUNCTIONING; HUMAN; MOOD; NEURONAL CEROID LIPOFUSCINOSIS; PRIORITY JOURNAL; PSYCHOLOGICAL WELL BEING; QUALITY OF LIFE; SYMPTOMATOLOGY;

BEHAVIOR; COGNITION; NEUROPSYCHOLOGY; QUALITY OF LIFE; UNIFIED BATTEN DISEASE RATING SCALE;

CHILD; CHILD BEHAVIOR DISORDERS; COGNITION DISORDERS; DISEASE PROGRESSION; HUMANS; NEURONAL CEROID-LIPOFUSCINOSES; PHENOTYPE;

EID: 84883717775     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813494813     Document Type: Article

References (47)

1. Phillips SN, Benedict JW, Weimer JM, Pearce DA. CLN3, the protein associated with batten disease: structure, function and localization. J Neurosci Res. 2005 ; 79: 573-583
2. Williams R The Neuronal Ceroid Lipofuscinoses: Batten Disease. Mole S Williams RE Goebel H, ed. Oxford: Oxford University Press ; 2011: 2nd.
3. Cialone J, Adams H, Augustine E, et al. Females experience a more severe disease course in Batten disease. J Inherit Metabol Dis. 2011 ; 35: 549-555
4. Stengel O.. Report about a strange illness in four siblings in the vicinity of Røros [in Norwegian]. Hager P, Andersen T, trans. Eyr. 1826 ; 1: 347-352
5. Batten F. London: ; 1902-1903.
6. Bäckman ML, Santavuori PR, Åberg LE, Aronen ET. Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res. 2005 ; 49: 25-32
7. Boustany RM, Filipek P. Seizures, depression and dementia in teenagers with Batten disease. J Inherit Metab Dis. 1993 ; 16: 252-255
8. Lauronen L, Munroe PB, Järvelä I, et al. Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. Neurology. 1999 ; 52: 360-365
9. Santavuori P, Linnankivi T, Jaeken J, Vanhanen S-L, Telakivi T, Heiskala H. Psychological symptoms and sleep disturbances in neuronal ceroid-lipofuscinoses (NCL). J Inherit Metab Dis. 1993 ; 16: 245-248
10. Crow YJ, Tolmie JL, Howatson AG, Patrick WJA, Stephenson JBP. Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits. Neuropediatrics. 1997 ; 28: 140-144
11. Lanska DJ, Lanska MJ. Kluver-Bucy syndrome in juvenile neuronal ceroid lipofuscinosis. J Child Neurol. 1994 ; 9: 67-69
12. Lamminranta S, Åberg LE, Autti T, et al. Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res. 2001 ; 45: 8-17
13. Marshall F, de Blieck E, Mink J, et al. Unified Batten Disease Rating Scale: description and reliability. Ann Neurol. 2004 ; 56 (suppl 8). S102
14. Marshall FJ, de Blieck EA, Mink JW, et al. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 2005 ; 65: 275-279
15. Wechsler Intelligence Scale for Children-Fourth Edition. Manual. San Antonio: The Psychological Corporation ; 2003 :
16. Sheslow D, Adams W WRAML2. Wide Range Assessment of Memory and Learning. 2. Wide Range Assessment of Memory and Learning. 2nd ed. Wilmington, DE: Wide Range Inc; 2003. Wilmington, DE: Wide Range Inc ; 2003 :
17. Lezak M Neuropsychological Assessment. 3 rd ed. New York: Oxford University Press; 1995. New York: Oxford University Press ; 1995 :
18. Varni J, Seid M, Rode C. The PedsQL™: measurement model for the Pediatric Quality of Life Inventory™. Med Care. 1999 ; 37: 126-139
19. Varni JW, Sherman SA, Burwinkle TM, Dickinson PE, Dixon P. The PedsQL™ Family Impact Module: preliminary reliability and validity. Health Qual Life Outcomes. 2004 ; 2: 1-6
20. Achenbach TM. Child Behavior Checklist/6-18.
21. Bruininks RH, Woodcock RW, Weatherman RE, Hill BK Scales of Independent Behavior-Revised: Comprehensive Manual. Itasca, IL: Riverside ; 1996 :
22. Reynolds CR, Bigler ED Test of Memory and Learning. Examiner's Manual. Austin: Pro-Ed ; 1994 :
23. WAIS-III, WMS-III. Technical Manual. San Antonio: The Psychological Corporation ; 2002 :
24. Semel E, Wiig EH, Secord WA Clinical Evaluation of Language Fundamentals - Third Edition. Technical Manual. San Antonio: The Psychological Corporation ; 1995 :
25. Rothberg PG, Ramirez-Montealegre D, Frazier SD, Pearce DA. Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. J Mol Diagn. 2004 ; 6: 260-263
26. Williams R, Mole S. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012 ; 79: 183-191
27. Adams H, de Blieck E, Dure L, et al. Obsessive/compulsive symptoms in juvenile neuronal ceroid lipofuscinosis (Batten disease). Ann Neurol. 2004 ; 56 (suppl 8). S127
28. Adams H, de Blieck E, Dure L, Marshall F, Mink J, Pearce DA. Neuropsychological and behavioral symptoms in juvenile neuronal ceroid lipofuscinosis (NCL-3; Batten's disease). Neurology. 2004 ; 62 (suppl 5). A68 - A69
29. Adams H, de Blieck EA, Mink JW, et al. Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2006 ; 48: 259-264
30. Adams H, Beck C, Levy E, et al. Genotype does not predict severity of behavioral phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). Dev Med Child Neurol. 2010 ; 52: 637-643
31. Adams H, Kwon J, Marshall FJ, de Blieck EA, Pearce DA, Mink JW. Neuropsychological symptoms of Juvenile-onset Batten disease: experiences from two studies. J Child Neurol. 2007 ; 22: 621-627
32. Labbe EE. Emotional states and perceived family functioning of caregivers of chronically ill children. Psychol Rep. 1996 ; 79: 1233-1234
33. Labbe EE, Lopez I, Murphy L, O'Brien C. Optimism and psychosocial functioning in caring for children with Battens and other neurological diseases. Psychol Rep. 2002 ; 90 (3 Pt 2). 1129-1135
34. Adams H, deBlieck E, Kwon J, et al
35. ScamblerS. Care in partnership: a study into the social care needs of young people with Juvenile Batten's disease and their families. See Ability: Seeing beyond disability. Published online:http://web.archive.org/web/ 20040218194003/http://www.seeability.org/randd/caresec3.htm;Accessed May 7, 2013.
36. Baron IS Neuropsychological Evaluation of the Child. Oxford: Oxford University Press ; 2004 :
37. Shapiro E, Balthazor M Pediatric Neuropsychology: Research, Theory, and Practice. Yeates K Ris M Taylor H, ed. New York: Guilford ; 2000: 171-205.
38. Cialone J, Augustine EF, Newhouse N, Vierhile A, Marshall FJ, Mink JW. Quantitative telemedicine ratings in Batten disease: implications for rare disease research. Neurology. 2011 ; 77: 1808-1811
39. ClinicalTrials.gov Identifier: NCT01399047.
40. Barton C, Morris R, Rothlind J, Yaffe K. Video-telemedicine in a memory disorders clinic: evaluation and management of rural elders with cognitive impairment. Telemed J E-Health. 2011 ; 17: 789-793
41. Breitling LP, Wolf M, Muller H, Raum E, Kliegel M, Brenner H. Large-scale application of a telephone-based test of cognitive functioning in older adults. Dement Geriatr Cogn Disord. 2010 ; 30: 309-316
42. Mundt JC, Geralts DS, Moore HK. Dial "T" for testing: Technological flexibility in neuropsychological assessment. Telemed J E-Health. 2006 ; 12: 317-323
43. Stain HJ, Payne K, Thienel R, Michie P, Carr V, Kelly B. The feasibility of videoconferencing for neuropsychological assessments of rural youth experiencing early psychosis. J Telemed Telecare. 2011 ; 17: 328-331
44. Bäckman ML, Åberg LE, Aronen ET, Santavuori PR. New antidepressive and antipsychotic drugs in juvenile neuronal ceroid lipofuscinoses - a pilot study. Eur J Paediatr Neurol. 2001 ; 5 (suppl A). 163-166
45. Logson R, McCurry S, Teri L. Evidence-based psychological treatments for disruptive behavior in individuals with dementia. Psychol Aging. 2007 ; 22: 28-36
46. Kazdin A. Parent management training: evidence, outcomes, issues. J Am Acad Child Adolesc Psychiatr. 1997 ; 36: 1349-1356
47. Peters C, Charnas LR, Tan Y, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood. 2004 ; 104: 881-888