Teaching children with Niemann-Pick disease

Niemann-Pick Disease (NPD) is a group of rare inherited disorders that are both systemic and degenerative. Knowledge of the disease, its characteristics, and its progression are essential for the teacher and related service personnel to provide an appropriate educational experience for the student. For the teacher who has a student with NPC1 in his/her classroom, the focus is two-fold: first to provide a supportive academic environment for the student with NPC1 and her/his classroom peers; and, second, to provide emotional support for the student and the family. Included in this manuscript are suggested accommodations for the teacher and other therapists and related service personnel to use in providing an appropriate education for a student with NPC1.

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THE IMPACT OF INFANTILE AMAUROTIC FAMILIAL IDIOCY (TAY-SACHS DISEASE) ON THE FAMILY

PEDIATRICS ◽

10.1542/peds.29.1.37 ◽

1962 ◽

Vol 29 (1) ◽

pp. 37-45

Author(s):

Abram Kanof ◽

Bernard Kutner ◽

Norman B. Gordon

Keyword(s):

Hereditary Disease ◽

Family Crisis ◽

Tay Sachs Disease ◽

Niemann Pick Disease ◽

Prolonged Contact ◽

The Family ◽

Niemann Pick ◽

Close Relatives ◽

The Impact ◽

Pick Disease

Although in its sociologic implications infantile amaurotic familial idiocy (Tay-Sachs disease) bears some resemblance to other types of fatal illnesses in children, such as leukemia,1 muscular dystrophy2,3 and some forms of brain deficit,4 it is unique in several respects. The illness makes its appearance early in life, there is usually a period of uncertainty as to diagnosis, its course is steadily downward without periods of remission, it is of comparatively short duration, and it is hereditary. A fatal hereditary disease in an infant bears with it a large number of reactions and decisions, which involve an ever-widening circle of persons. Not only is there an invariable emotional effect upon the parents, but, as will be indicated in this report, close relatives, friends, neighbors and associates are to some extent also concerned. The disease represents a family crisis, and it is the purpose of this study to report and assess the major methods with which families cope with the crisis, the problems they face, the solutions they undertake, and the help we may be able to offer. Moreover close and prolonged contact with the parents of infants with amaurotic familial idiocy has given us many opportunities to observe the physician-parent relationship that develops during this illness. We are impressed with the need to understand the parental problems, and we hope to make suggestions to the physician confronted with this illness. FAMILY BACKGROUNDS The study is based upon interviews with parents of children who have or have had amaurotic familial idiocy. (Two of the families have had children with lipid histiocytosis of phosphalide type, also called Niemann-Pick disease.)

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Unique molecular signature in mucolipidosis type IV microglia

Journal of Neuroinflammation ◽

10.1186/s12974-019-1672-4 ◽

2019 ◽

Vol 16 (1) ◽

Cited By ~ 1

Author(s):

Antony Cougnoux ◽

Rebecca A. Drummond ◽

Mason Fellmeth ◽

Fatemeh Navid ◽

Amanda L. Collar ◽

...

Keyword(s):

Fabry Disease ◽

Disease Type ◽

Cns Involvement ◽

Inherited Disorders ◽

Mucolipidosis Type Iv ◽

Type Iv ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Mucolipidosis Type ◽

Pick Disease

Abstract Background Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies. Depending on the affected metabolic pathway, LSD manifest with somatic or central nervous system (CNS) signs and symptoms. Neuroinflammation is a hallmark feature of LSD with CNS involvement such as mucolipidosis type IV, but not of others like Fabry disease. Methods We investigated the properties of microglia from LSD with and without major CNS involvement in 2-month-old mucolipidosis type IV (Mcoln1−/−) and Fabry disease (Glay/−) mice, respectively, by using a combination of flow cytometric, RNA sequencing, biochemical, in vitro and immunofluorescence analyses. Results We characterized microglia activation and transcriptome from mucolipidosis type IV and Fabry disease mice to determine if impaired lysosomal function is sufficient to prime these brain-resident immune cells. Consistent with the neurological pathology observed in mucolipidosis type IV, Mcoln1−/− microglia demonstrated an activation profile with a mixed neuroprotective/neurotoxic expression pattern similar to the one we previously observed in Niemann-Pick disease, type C1, another LSD with significant CNS involvement. In contrast, the Fabry disease microglia transcriptome revealed minimal alterations, consistent with the relative lack of CNS symptoms in this disease. The changes observed in Mcoln1−/− microglia showed significant overlap with alterations previously reported for other common neuroinflammatory disorders including Alzheimer’s, Parkinson’s, and Huntington’s diseases. Indeed, our comparison of microglia transcriptomes from Alzheimer’s disease, amyotrophic lateral sclerosis, Niemann-Pick disease, type C1 and mucolipidosis type IV mouse models showed an enrichment in “disease-associated microglia” pattern among these diseases. Conclusions The similarities in microglial transcriptomes and features of neuroinflammation and microglial activation in rare monogenic disorders where the primary metabolic disturbance is known may provide novel insights into the immunopathogenesis of other more common neuroinflammatory disorders. Trial registration ClinicalTrials.gov, NCT01067742, registered on February 12, 2010

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