Fetal alcohol spectrum disorder – New diagnostic initiatives

Greenbaum, Rachel; Koren, Gideon

doi:10.1093/pch/7.3.139

Cited by 11 publications

(11 citation statements)

References 16 publications

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“…Alcohol abuse during pregnancy can damage multiple organ systems in the fetus, resulting in permanent functional deficits that persist into adulthood (Greenbaum and Koren ). As individuals exposed to alcohol during fetal life often display considerable variation in the pattern and severity of these functional deficits, the term fetal alcohol spectrum disorder (FASD) was coined to convey this widespread variability.…”

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confidence: 99%

Intracellular calcium plays a critical role in the alcohol‐mediated death of cerebellar granule neurons

Kouzoukas

Takapoo

et al. 2012

Journal of Neurochemistry

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Alcohol is a potent neuroteratogen that can trigger neuronal death in the developing brain. However, the mechanism underlying this alcohol-induced neuronal death is not fully understood. Utilizing primary cultures of cerebellar granule neurons (CGN), we tested the hypothesis that the alcohol-induced increase in intracellular calcium [Ca2+]i causes the death of CGN. Alcohol induced a dose-dependent (200–800 mg/dl) neuronal death within 24 hours. Ratiometric Ca2+ imaging with Fura-2 revealed that alcohol causes a rapid (one-two minutes), dose-dependent increase in [Ca2+]i, which persisted for the duration of the experiment (5 or 7 minutes). The alcohol-induced increase in [Ca2+]i was observed in Ca2+-free media, suggesting intracellular Ca2+ release. Pre-treatment of CGN cultures with an inhibitor (2-APB) of the inositol-triphosphate receptor (IP3R), which regulates Ca2+ release from the endoplasmic reticulum (ER), blocked both the alcohol-induced rise in [Ca2+]i and the neuronal death caused by alcohol. Similarly, pre-treatment with BAPTA/AM, a Ca2+-chelator, also inhibited the alcohol-induced surge in [Ca2+]i and prevented neuronal death. In conclusion, alcohol disrupts [Ca2+]i homeostasis in CGN by releasing Ca2+ from intracellular stores, resulting in a sustained increase in [Ca2+]i. This sustained increase in [Ca2+]i may be a key determinant in the mechanism underlying alcohol-induced neuronal death.

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confidence: 99%

Intracellular calcium plays a critical role in the alcohol‐mediated death of cerebellar granule neurons

Kouzoukas

Takapoo

et al. 2012

Journal of Neurochemistry

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“…The evaluation of facial parameters in FAS(D) diagnostics is currently based in part on visual, and thus subjective, assessment. The heterogeneity and fading of visual parameters in the later stages of life make the diagnosis of FAS(D) extremely challenging, leaving many patients without adequate health care and developmental support [27]. To date, the most commonly-used tool for the evaluation of facial features in FASD patients is the lip-philtrum guide proposed by Astley et al, which is based on a visual comparison of the lips, philtrum and midfacial development to photographs [28].…”

Section: Discussionmentioning

confidence: 99%

Children with Fetal Alcohol Syndrome (FAS): 3D-Analysis of Palatal Depth and 3D-Metric Facial Length

Blanck-Lubarsch

Dirksen

Feldmann

et al. 2019

IJERPH

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Background: Drinking alcohol during pregnancy can result in severe developmental disorders in the child. Symptoms of the fetal alcohol spectrum disorder (FASD) comprise growth deficiencies, abnormal facial phenotype and damage or dysfunction of the central nervous system. Numerous diagnostic methods for facial phenotyping in FASD exist, but diagnoses are still difficult. Our aim was to find additional and objective methods for the verification of FAS(D). Methods: Three-dimensional dental models of 60 children (30 FAS and 30 controls) were used to metrically determine maximum palatal depths at the median palatine raphe. Three-dimensional facial scans were taken, and vertical distances of the face were measured at five defined facial landmarks (FP1-FP5) for each child. Results: Mean palatal height, total facial length (FP1-FP5) as well as FP4-FP5 did not significantly differ between the FAS group and the control group. Comparing vertical facial subdivisions, however, resulted in significant differences for distances FP1 to FP2 (p = 0.042, FAS > controls), FP2 to FP3 (p < 0.001, FAS < controls), FP3 to FP4 (p < 0.001, FAS > controls) and FP3 to FP5 (p = 0.007, FAS > controls). Conclusions: Metric vertical measurements of the face can be used as additional objective criteria for FAS diagnoses. However, no significant differences were reported for palatal depth evaluation in the specific age range tested in the present study.

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“…A relatively small proportion of individuals prenatally exposed to alcohol in utero have full FAS. It has been estimated that only 10 to 40% of offspring of alcohol abusing mothers meet the criteria for a diagnosis of full FAS (Greenbaum & Koren, 2002). Partial FAS is distinguished by the presence of some, but not all, of the characteristics of FAS when prenatal exposure has been confirmed.…”

Section: What Is Fasd?mentioning

confidence: 99%

“…In addition, individuals exposed to alcohol prenatally who do not have the distinct facial features can have other alcohol-related physical abnormalities of the skeleton and certain organ systems; known as ARBD. In ARND and ARBD, there is also evidence of a complex pattern of behavioural, cognitive, and psychosocial abnormalities that are unusual for the individual's chronological age, but are consistent with their developmental age (mental age) (Budd, Ross-Alamolki & Zeller, 2000;California Fetal Alcohol Spectrum Organization, 2004;Greenbaum & Koren, 2002;Health Canada, Population and Public Health Branch, 1998;Streissguth, 1986).…”

Section: What Is Fasd?mentioning

confidence: 99%

An investigation into the needs of parents with fetal alcohol spectrum disorder (FASD).

Abraham¹

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Fetal alcohol spectrum disorder – New diagnostic initiatives

Cited by 11 publications

References 16 publications

Intracellular calcium plays a critical role in the alcohol‐mediated death of cerebellar granule neurons

Intracellular calcium plays a critical role in the alcohol‐mediated death of cerebellar granule neurons

Children with Fetal Alcohol Syndrome (FAS): 3D-Analysis of Palatal Depth and 3D-Metric Facial Length

An investigation into the needs of parents with fetal alcohol spectrum disorder (FASD).

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