Cognitive Evaluation of Neurologically Asymptomatic Boys With X-linked Adrenoleukodystrophy

Cox, Christiane; Raymond, Gerald V.; Mahmood, Asif; Moser, Ann B.; Moser, Hugo W.

doi:10.1001/archneur.63.1.69

Cited by 32 publications

(19 citation statements)

References 17 publications

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“…While testing will not affect medical management this early in life, parents can explore therapeutic options before a son at risk becomes symptomatic. Results published by Cox et al (2005) show that cognitive function is intact in young asymptomatic patients despite the inherent defect of ALDP. These results support early identification of males at risk for developing ALD in order to maintain and monitor neurologic function.…”

Section: Presymptomatic Testingmentioning

confidence: 99%

Attitudes of Families Affected by Adrenoleukodystrophy toward Prenatal Diagnosis, Presymptomatic and Carrier Testing, and Newborn Screening

et al. 2007

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Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols. Identifying attitudes toward genetic testing, including newborn screening, is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens. The Kennedy Krieger Institute (KKI) database identified 327 prospective participants. Families that were willing to participate in the study received an anonymous questionnaire for completion. Frequencies were generated using SPSS software for Windows. Questionnaires were returned from 128 families for a response rate of 39%. Sons who were at risk for inheriting the ALD gene would be tested by 93% of respondents, and 89.3% would ideally have this testing performed prenatally or in the newborn period. Eighty-nine percent would test an at-risk daughter and 51.2% would ideally have this testing performed prenatally or shortly after birth. ALD newborn screening for males and females was supported by 90% of respondents. If newborn screening for ALD/AMN commences, or there is a new diagnosis of ALD, genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options.

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Section: Presymptomatic Testingmentioning

confidence: 99%

Attitudes of Families Affected by Adrenoleukodystrophy toward Prenatal Diagnosis, Presymptomatic and Carrier Testing, and Newborn Screening

et al. 2007

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“…Early development is entirely normal, with normal neurological development, cognitive function and normal brain MRI. 27 Brain MRI abnormalities precede symptoms. 28 In our experience, 21 months is the earliest age of clinical manifestations.…”

Section: Phenotypes In X-ald Malesmentioning

confidence: 99%

“…Most of the patients in this category are less than seven years old. Cognitive function is normal in most, 27 and thus provide a key group for therapeutic interventions. Longer follow-up is required to assess long-term prognosis.…”

Section: "The Asymptomatic-normal Mri" Phenotypementioning

confidence: 99%

Therapy of X-linked adrenoleukodystrophy

Moser

2006

NeuroRX

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Summary: Current therapies for X-linked adrenoleukodystrophy (X-ALD) include replacement therapy with adrenal steroids, which is mandatory for all patients with impaired adrenal function but does not alter neurological progression significantly; dietary therapy with "Lorenzo's Oil," which appears to have a preventive effect in asymptomatic boys whose brain MRI is normal; and hematopoietic stem cell transplantation in patients in the early stage of the cerebral inflammatory phenotype. Application of these interventions requires careful assessment of the patients' phenotype, which often changes over time. Family screening provides important opportunities for disease prevention.

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“…Bone marrow transplantation (BMT) may be indicated when patients are pre-symptomatic but have MRI findings consistent with early cerebral ALD (8). Because of the possibility of preserving cognitive function with timely therapy, some studies have recommended neonatal screening for X-linked ALD (9). Long-term follow-up of patients receiving BMT have shown that there are beneficial effects when the procedure is done at an early stage of the disease (10).…”

Section: Discussionmentioning

confidence: 99%

Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male

Schwab

Pena

Sigman

et al. 2010

Clin Pediatr Endocrinol

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We are presenting a five-year-old male with recurrent anion gap acidosis. During his last admission, it was detected that he had elevated VLCFA and the evaluation discovered that he had X-linked Adrenooleukodystrophy. He had the Addisonian only phenotype without any clinical or radiographic CNS findings. We were unable to find any other reports of this presentation of ALD. If the work-up of recurrent anion gap acidosis does not uncover an etiology, X-linked ALD should be considered in the differential diagnosis.

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Cognitive Evaluation of Neurologically Asymptomatic Boys With X-linked Adrenoleukodystrophy

Cited by 32 publications

References 17 publications

Attitudes of Families Affected by Adrenoleukodystrophy toward Prenatal Diagnosis, Presymptomatic and Carrier Testing, and Newborn Screening

Attitudes of Families Affected by Adrenoleukodystrophy toward Prenatal Diagnosis, Presymptomatic and Carrier Testing, and Newborn Screening

Therapy of X-linked adrenoleukodystrophy

Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male

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