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Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

ABSTRACT: We describe the case of a young woman, from a consanguineous family, affected by adult Refsum disease (ARD, OMIM#266500). ARD is a rare peroxisomal autosomal recessive disease due to deficient alpha-oxidation of phytanic acid (PA), a branched-chain fatty acid. The accumulation of PA in organs is thought to be responsible for disease symptoms. The patient presented only bilateral shortening of metatarsals and has been treated with a low-PA diet. She is homoallelic for the c.135-2A?>?G mutation of PHYH, and she married her first cousin carrying the same mutation. She was pregnant seven times and had two homozygous girls. Due to a potential exacerbation of the disease during the third trimester of pregnancy, her weight and plasma PA levels were monitored. No specific events were noticed for the mother during the pregnancies and postpartum periods. This case also raised the question of potential exposure to PA (and its subsequent toxicity) of a homozygous fetus in a homozygous mother. Despite modestly elevated plasma concentrations of PA at birth (<30??mol/L), the two affected girls did not present any specific sign of ARD and have so far developed normally. As only a few determinations of plasma PA levels in the mother could be performed during pregnancies, showing mild elevations (<350??mol/L), it remains difficult to conclude as to a possible transplacental crossing of PA.

SUBMITTER: Dubot P

PROVIDER: S-EPMC6498833 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

Dubot Patricia P Astudillo Léonardo L Touati Guy G Baruteau Julien J Broué Pierre P Roche Sandrine S Sabourdy Frédérique F Levade Thierry T

JIMD reports 20190314 1

We describe the case of a young woman, from a consanguineous family, affected by adult Refsum disease (ARD, OMIM#266500). ARD is a rare peroxisomal autosomal recessive disease due to deficient alpha-oxidation of phytanic acid (PA), a branched-chain fatty acid. The accumulation of PA in organs is thought to be responsible for disease symptoms. The patient presented only bilateral shortening of metatarsals and has been treated with a low-PA diet. She is homoallelic for the c.135-2A > G mutation of ...[more]

PMID: 31240149

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Project description:ObjectivesBehavioural and lifestyle factors, as oral hygiene and diet, are well-established risk factors in the pathogenesis of dental caries, though displaying large differences in susceptibility across individuals. Since enamel formation already starts in utero, pregnancy course and outcome may eventually play a role in enamel strength and caries susceptibility. Therefore, we studied the association between history of pregnancy complications and the caries experience in their six-year-old children. The pregnancy complications included small for gestational age (SGA), spontaneous preterm birth (sPTB), gestational hypertension (GH), pre-eclampsia (PE), individually, and a combination of those, designated as placental syndrome.MethodsThis study was embedded in Generation R, a prospective longitudinal Dutch multiethnic pregnancy cohort study. Information about pregnancy complications was obtained from questionnaires completed by midwives and obstetricians with cross-validation in medical records. These included SGA, sPTB, GH and PE. Caries experience was assessed with the decayed, missing and filled teeth (dmft) index at a mean age of six years. The association between dental caries experience and a history of pregnancy complications was studied by using hurdle negative binomial (HNB) models.ResultsWe were able to assess the dmft index in 5323 six-year-old children (mean age 6.2 years, SD 0.5). We did not find an association between the different pregnancy complications and dental caries experience in childhood, whether for SGA, sPTB, GH, PE, or for the combined outcome placental syndrome (HNB estimates: OR 1.02, 95%CI 0.87 - 1.19; RR 0.90, 95%CI 0.78 - 1.04). Further adjustment of the models with different confounders did not alter the outcome.ConclusionsAlthough it is expected that prenatal stress can be a risk factor for caries development later in life, our findings do not support this hypothesis. Therefore, we believe disparities in caries experience between children are probably not explained by early life events during a critical intrauterine period of development.

Project description:Purpose: We sought to determine the role of depression and anxiety in breastfeeding cessation. Materials and Methods: Participants underwent a baseline visit with a structured clinical interview in the third trimester of pregnancy. Monthly phone interviews assessed current mood symptoms and infant feeding status. We assessed the association between baseline mood and infant feeding outcomes using Cox proportional hazards regression, adjusting for infant feeding intention and sociodemographic confounders. Results: We enrolled 222 mother-infant dyads in late pregnancy, of whom 206 completed assessments through 12 months postpartum. We enriched our study with symptomatic women by enrolling 87 women with current depression or anxiety (Current), 64 women with a history of depression or anxiety (Past), and 71 women with no psychiatric history (Never). In multivariable-adjusted analyses, baseline diagnosis was not associated with breastfeeding outcome, but baseline symptoms of depression (Beck Depression Inventory ≥11) or anxiety (Spielberger State Anxiety ≥40) were associated with earlier introduction of formula (depression: adj hazard ratio [HR] 1.52, 95% confidence interval [CI] 1.01-2.30; anxiety: 1.70, 95% CI 1.01-2.87); and any cessation of breastfeeding (depression: adj HR 2.02, 95% CI 1.23-3.31; anxiety: 1.83, 95% CI 1.00-3.33), as were depression symptoms among women who were being treated with antidepressants, compared with untreated asymptomatic women (formula: adj HR 2.27, 95% CI 1.29-4.02; cessation: 2.32, 95% CI 1.17-4.61). History of childhood trauma (adj HR 1.34, 95% CI 1.12-1.61), disordered eating symptoms (adj HR 1.22, 95% CI 1.02-1.46), and poor sleep quality in pregnancy (adj HR 1.32, 95% CI 1.09-1.60) were independently associated with earlier introduction of formula. Conclusions: Baseline mood symptoms were independently associated with earlier formula introduction and cessation of breastfeeding. History of childhood trauma, disordered eating symptoms and poor sleep quality were associated with earlier formula introduction. Targeted support may enable women with these symptoms to achieve their feeding goals.

Project description:Recent research shows that preschool children born to opioid-dependent mothers are at increased risk for cognitive, psychomotor, attention, and social-emotional adjustment problems. But very little is known about their school-age functioning, particularly their educational achievement. This analysis examined the educational outcomes of a regional cohort of 100 prenatally methadone-exposed children who were prospectively studied from birth to age 9.5 years alongside a comparison group of 110 randomly identified non-exposed children born between 2003 and 2008. At age 9.5, as part of a comprehensive neurodevelopmental evaluation, children's teachers rated their achievement across the school curriculum, and children completed the Woodcock Johnson-III Tests of Achievement (WJ-III). Detailed information about the birth mother's social background, pregnancy substance use, and mental health was also collected during pregnancy/at term. Infant clinical data were collected after birth. Methadone-exposed children performed less well than non-exposed children across seven school curriculum areas rated by teachers (ps ?.001), performed less well than non-exposed children on all reading and mathematics subtests of the WJ-III, and had higher rates of any educational delay on the WJ-III (57% vs. 15%), OR = 7.47 (3.71-15.02). Results were similar when children with severe intellectual impairment were excluded. After adjusting for confounding factors, methadone-exposed children had increased odds of educational delay, but this was only marginally significant (OR = 3.62, [1.01-13.01], p = .049). Maternal educational attainment level (OR = 0.69, [0.50-0.89], p = .006), and maternal benzodiazepine use during pregnancy (OR = 2.70 [1.03-7.12], p = .044) were also associated with later educational risk. Findings suggest that children born to opioid-dependent women enrolled in methadone maintenance are at high risk of educational delay by age 9.5 years. Children's academic difficulties appeared to reflect the effects of both adverse prenatal exposures and postnatal social risk.

Dataset Information

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

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Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

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