Developmental Disabilities and Metabolic Disorders

Gregory, Mary Lee; Burton, Vera Joanna; Shapiro, Bruce K.

doi:10.1016/b978-0-12-398270-4.00003-3

Cited by 12 publications

(9 citation statements)

References 38 publications

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“…The term endophenotypes was first coined ~50 years ago to explain insects’ evolution (John & Lewis, 1966) and introduced to psychiatry by Gottesman and Shields in 1967. In complex neuropsychiatric conditions such as ADHD, endophenotypes might be defined as neuropsychological, behavioral, cognitive, or neuroanatomical quantitative “measurable components” associated/correlated with the disorder (Castellanos & Tannock, 2002; Miller & Rockstroh, 2016; Walters & Owen, 2007) that occurs at a higher frequency in individuals with the disease than in the general population, are heritable, state-independent (i.e., manifest in individuals whether the illness is active), tend to co-segregate with the illness within families, and lie in the causal pathway between gene and disease (Flint & Munafo, 2007; Lee Gregory, Burton, Shapiro, Rowland, & Coyle, 2015; Walters & Owen, 2007). Given that endophenotypes are in general continuous variables instead of categorical traits, do not depend on the inherent difficulties of a symptoms-based clinical diagnosis, and have the ability to differentiate between potential diagnoses that present with similar symptoms (Brotman et al, 2008; Gottesman & Gould, 2003), it has been hypothesized that they are well suited to study the genetic and neurophysiological basis of psychiatric traits such as ADHD (Castellanos & Tannock, 2002; Mastronardi et al, 2016; Pineda et al, 2011; Sibley et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

ADHD Endophenotypes in Caribbean Families

et al. 2018

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Section: Introductionmentioning

confidence: 99%

ADHD Endophenotypes in Caribbean Families

et al. 2018

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“…The critical period for each organ system varies throughout the embryonic stage [41,42]. The exact drug exposure time is therefore of great importance for the pattern of congenital malformations.…”

Section: Congenital Malformationsmentioning

confidence: 99%

Antithyroid drug treatment and pregnancy outcomes among women with hyperthyroidism in pregnancy: A Norwegian population-based registry-linkage study

2021

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Aims: The aim of this study was two-fold: i) to describe factors associated with antithyroid drug (ATD) treatmentduring gestation among women with hyperthyroidism in pregnancy, ii) to investigate the impact of ATDtreatment during gestation on pregnancy outcomes.Methods: Women with hyperthyroidism in pregnancy and ATD treatments were identified through linkage ofthree national registries (2008-2018): The Medical Birth Registry of Norway, the Norwegian PrescriptionRegistry and the Norwegian Patient Registry. Pregnancies were categorized as ATD treated or untreated basedon filled prescriptions indicating ATD exposure during pregnancy. ATD treatment was examined by trimester(T1, T2/T3) and by substance carbimazole (CMZ), propylthiouracil (PTU) and by both CMZ/PTU. Generalizedestimating equations analysis with a robust variance estimator was used to estimate adjusted odds ratio (aOR)and adjusted standardized mean difference (aSMD) with 95% confidence interval (CI).Results: We identified 1699 pregnancies with hyperthyroidism during gestation. Hyperthyroidism was treatedwith ATD in 44.4% of the pregnancies, while 55.6% were untreated. Pregnant women treated with ATD hadmore often asthma compared to untreated women. Prenatal exposure to CMZ was associated with increased riskof preterm birth (aOR 1.8, 95% CI 1.1-2.8) whereas PTU exposure in the first trimester was associated with anincreased risk of cardiac malformations (aOR 9.0, 95% CI 1.8-44.7). There was no association between ATDtreatment in pregnancy and maternal preeclampsia (aOR 0.8, 95% CI 0.4-1.3) and gestational hypertension (aOR0.9, 95% CI 0.5-1.8).Conclusion: This nationwide registry study found an association between treatment with carbimazole and increasedrisk of preterm birth. Exposure to propylthiouracil in the first trimester was associated with an increasedrisk of cardiac malformations. These findings should be interpreted in light of international findings on the riskof untreated hyperthyroidism and the potential risk of ATD treatment for the mother and child.

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“…Endophenotypes, or the extreme presentation of these traits: (i) occur more frequently in individuals with the disease, (ii) co-segregate in families, and/or (iii) manifest in individuals with variable expressivity and/or variable penetrance depending upon whether the disease is present [10,11]. Thus, endophenotypes are seen as a proxy to the actual phenotype as they connect behavioral symptoms with the well-understood illness associated with known genetic causes [8,[12][13][14][15]. In ADHD, endophenotypes have allowed the definition of potential neurobiological markers for detecting ADHD susceptibility loci [10,13,[16][17][18].…”

Section: Introductionmentioning

confidence: 99%

ADGRL3, FGF1 and DRD4: Linkage and Association with Working Memory and Perceptual Organization Candidate Endophenotypes in ADHD

et al. 2021

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Attention deficit hyperactivity disorder (ADHD) is a highly heritable neurobehavioral disorder that affects children worldwide, with detrimental long-term consequences in affected individuals. ADHD-affected patients display visual–motor and visuospatial abilities and skills that depart from those exhibited by non-affected individuals and struggle with perceptual organization, which might partially explain impulsive responses. Endophenotypes (quantifiable or dimensional constructs that are closely related to the root cause of the disease) might provide a more powerful and objective framework for dissecting the underlying neurobiology of ADHD than that of categories offered by the syndromic classification. In here, we explore the potential presence of the linkage and association of single-nucleotide polymorphisms (SNPs), harbored in genes implicated in the etiology of ADHD (ADGRL3, DRD4, and FGF1), with cognitive endophenotypes related to working memory and perceptual organization in 113 nuclear families. These families were ascertained from a geographical area of the Caribbean coast, in the north of Colombia, where the community is characterized by its ethnic diversity and differential gene pool. We found a significant association and linkage of markers ADGRL3-rs1565902, DRD4-rs916457 and FGF1-rs2282794 to neuropsychological tasks outlining working memory and perceptual organization such as performance in the digits forward and backward, arithmetic, similarities, the completion of figures and the assembly of objects. Our results provide strong support to understand ADHD as a combination of working memory and perceptual organization deficits and highlight the importance of the genetic background shaping the neurobiology, clinical complexity, and physiopathology of ADHD. Further, this study supplements new information regarding an ethnically diverse community with a vast African American contribution, where ADHD studies are scarce.

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Developmental Disabilities and Metabolic Disorders

Cited by 12 publications

References 38 publications

ADHD Endophenotypes in Caribbean Families

ADHD Endophenotypes in Caribbean Families

Antithyroid drug treatment and pregnancy outcomes among women with hyperthyroidism in pregnancy: A Norwegian population-based registry-linkage study

ADGRL3, FGF1 and DRD4: Linkage and Association with Working Memory and Perceptual Organization Candidate Endophenotypes in ADHD

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