Literature DB >> 24014508

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

Heather R Adams1, Jonathan W Mink.   

Abstract

Juvenile neuronal ceroid lipofuscinosis is a childhood-onset neurodegenerative disease with prominent symptoms comprising a pediatric dementia syndrome: intellectual decline, mood and behavioral impairments, and loss of adaptive skills. We review the history of neurobehavioral features in juvenile neuronal ceroid lipofuscinosis and the work of the University of Rochester Batten Center to characterize the extent and progression of neurobehavioral symptoms over the disease course, and discuss the relevance of neurobehavioral studies as an aid to understanding the clinical phenotype of juvenile Batten disease and potential targets for intervention.

Entities:  

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

Mesh:

Year:  2013        PMID: 24014508      PMCID: PMC3976549          DOI: 10.1177/0883073813494813

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  28 in total

1.  Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.

Authors:  Paul G Rothberg; Denia Ramirez-Montealegre; Sharon D Frazier; David A Pearce
Journal:  J Mol Diagn       Date:  2004-08       Impact factor: 5.568

2.  Emotional states and perceived family functioning of caregivers of chronically ill children.

Authors:  E E Labbé
Journal:  Psychol Rep       Date:  1996-12

Review 3.  Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits.

Authors:  Y J Crow; J L Tolmie; A G Howatson; W J Patrick; J B Stephenson
Journal:  Neuropediatrics       Date:  1997-06       Impact factor: 1.947

4.  Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.

Authors:  L Lauronen; P B Munroe; I Järvelä; T Autti; H M Mitchison; A M O'Rawe; R M Gardiner; S E Mole; J Puranen; A M Häkkinen; E Kirveskari; P Santavuori
Journal:  Neurology       Date:  1999-01-15       Impact factor: 9.910

Review 5.  Seizures, depression and dementia in teenagers with Batten disease.

Authors:  R M Boustany; P Filipek
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis.

Authors:  M L Bäckman; P R Santavuori; L E Aberg; E T Aronen
Journal:  J Intellect Disabil Res       Date:  2005-01

7.  Parent management training: evidence, outcomes, and issues.

Authors:  A E Kazdin
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  1997-10       Impact factor: 8.829

8.  The PedsQL: measurement model for the pediatric quality of life inventory.

Authors:  J W Varni; M Seid; C A Rode
Journal:  Med Care       Date:  1999-02       Impact factor: 2.983

9.  Klüver-Bucy syndrome in juvenile neuronal ceroid lipofuscinosis.

Authors:  D J Lanska; M J Lanska
Journal:  J Child Neurol       Date:  1994-01       Impact factor: 1.987

10.  The PedsQL Family Impact Module: preliminary reliability and validity.

Authors:  James W Varni; Sandra A Sherman; Tasha M Burwinkle; Paige E Dickinson; Pamela Dixon
Journal:  Health Qual Life Outcomes       Date:  2004-09-27       Impact factor: 3.186

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  12 in total

Review 1.  Overview of advances in educational and social supports for young persons with NCL disorders.

Authors:  Bengt Elmerskog; Anne-Grethe Tøssebro; Rebecca Atkinson; Svein Rokne; Barbara Cole; Adam Ockelford; Heather R Adams
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2019-05-30       Impact factor: 5.187

2.  Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder.

Authors:  Rebecca C Ahrens-Nicklas; Luis Tecedor; Arron F Hall; Elena Lysenko; Akiva S Cohen; Beverly L Davidson; Eric D Marsh
Journal:  JCI Insight       Date:  2019-11-01

3.  Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis).

Authors:  Erika F Augustine; Christopher A Beck; Heather R Adams; Sara Defendorf; Amy Vierhile; Derek Timm; Jill M Weimer; Jonathan W Mink; Frederick J Marshall
Journal:  JIMD Rep       Date:  2018-06-20

Review 4.  Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.

Authors:  Konrad Kaminiów; Sylwia Kozak; Justyna Paprocka
Journal:  Int J Mol Sci       Date:  2022-05-20       Impact factor: 6.208

5.  Use of the Vineland-3, a measure of adaptive functioning, in CLN3.

Authors:  An N Dang Do; Audrey E Thurm; Cristan A Farmer; Ariane G Soldatos; Colby E Chlebowski; Julie K O'Reilly; Forbes D Porter
Journal:  Am J Med Genet A       Date:  2021-12-16       Impact factor: 2.578

6.  Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family.

Authors:  Aline K Honingh; Yvonne L Kruithof; Willemijn F E Kuper; Peter M van Hasselt; Paula S Sterkenburg
Journal:  Int J Environ Res Public Health       Date:  2022-05-12       Impact factor: 4.614

7.  Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability.

Authors:  Shayne N Ragbeer; Erika F Augustine; Jonathan W Mink; Alyssa R Thatcher; Amy E Vierhile; Heather R Adams
Journal:  J Child Neurol       Date:  2015-09-02       Impact factor: 1.987

Review 8.  Therapeutic landscape for Batten disease: current treatments and future prospects.

Authors:  Tyler B Johnson; Jacob T Cain; Katherine A White; Denia Ramirez-Montealegre; David A Pearce; Jill M Weimer
Journal:  Nat Rev Neurol       Date:  2019-03       Impact factor: 42.937

9.  Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses.

Authors:  Katharina Iwan; Robert Clayton; Philippa Mills; Barbara Csanyi; Paul Gissen; Sara E Mole; David N Palmer; Kevin Mills; Wendy E Heywood
Journal:  iScience       Date:  2020-12-31

Review 10.  Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.

Authors:  Alessandro Simonati; Ruth E Williams
Journal:  Front Neurol       Date:  2022-03-11       Impact factor: 4.003

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