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"Northrup, Kate"
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Transgenerational associations between maternal childhood stress exposure and profiles of infant emotional reactivity
Childhood exposure to stress can induce prolonged negative effects on health, which in turn confer risks for the next generation, but greater specificity is needed to inform intervention. A first step is to measure individual differences in emotional reactivity to stress early in life in ways that can account for heterogeneity in child exposure. The present study tested the hypothesis that mothers’ childhood exposure to stress would be differentially associated with patterns of positive and negative emotional reactivity in their offspring, suggesting transmission of stress response across generations. Participants were 268 young mothers (age 14–23 years) followed longitudinally since childhood, and their infants aged 3–9 months. Latent class analysis of infant emotions expressed before and during the still-face paradigm yielded five subgroups that varied in valence, intensity, and reactivity. After accounting for sociodemographic factors, infant temperament, and postpartum depression, multinomial regression models showed that, relative to an emotionally regulated still-face response, infants showing low negative reactivity were more likely to have mothers exposed to childhood emotional abuse, and infants showing high and increasing negative reactivity were more likely to have mothers exposed to childhood emotional neglect. Mechanisms by which early maternal stress exposure influences emotional reactivity in offspring are discussed.
Journal Article
Identification of a novel microdeletion causative of Nance‐Horan syndrome
Background Nance‐Horan syndrome (NHS) is a rare X‐linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. The clinical phenotype in males includes congenital cataracts, vision loss, microcornea, nystagmus, microphthalmia, glaucoma, screwdriver blade‐shaped incisors, supernumerary maxillary incisors, diastema, delays, intellectual disability, and dysmorphic facies. With the evolution of array‐CGH technology, a total of five kindreds with NHS have been reported in the medical literature with microdeletions encompassing the NHS gene rather than sequencing variants. Methods The patient is a 19‐year‐old male born to non‐consanguineous parents with a past medical history of bilateral congenital cataracts, nystagmus, poor vision, glaucoma, screwdriver blade‐shaped incisors, global developmental delay, intellectual disability, bilateral sensorineural hearing loss, axial hypotonia, and bilateral foot contractures. Results A chromosomal microarray (CMA) was performed and revealed a 1.83‐Mb interstitial microdeletion at Xp22.2p22.13 (16,604,890–18,435,836) (GRCh37/hg19) that included NHS, CTPS2, S100G, TXLNG, RBBP7, REPS2, SCML1, RAI2, and SCML2. Conclusion Here, we report the second largest microdeletion causative of NHS which also encompasses the remaining four kindreds in hopes of offering a unique perspective at the clinical variability within NHS, investigate genes of interest, and expand the phenotype. Nance‐Horan syndrome (NHS) is a rare X‐linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. Here, we report the second largest microdeletion causative of NHS which also encompasses the remaining four kindreds in hopes of offering a unique perspective at the clinical variability within NHS, investigate genes of interest, and expand the phenotype.
Journal Article
Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family
Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition that involves abnormalities of the skin, hamartomas in the heart, brain, and kidneys, seizures, as well as TSC‐associated neuropsychiatric disorders (TAND). About 90%–95% of individuals with TSC will have an identifiable pathogenic variant in either TSC1 or TSC2. We present here two family members with clinical diagnoses of TSC that were later determined to be due to two different genetic etiologies. Methods A 2‐year‐old Caucasian female (Patient 1) was born to non‐consanguineous healthy parents and was determined to have a clinical diagnosis of TSC at 2 months old. Her paternal great‐uncle (Patient 2) was also known to have a clinical diagnosis of TSC. Sequencing and deletion/duplication analysis for TSC1 and TSC2 were performed on both individuals. Results Mutation analysis revealed that both Patient 1 and Patient 2 had identifiable pathogenic variants in TSC2. Patient 1 had c.4800_4801delTG (p.Cys1600Trpfs*2), while Patient 2 had c.4470_4471delinsTT (p.Glu1490_Lys1491delinsAsp*). Conclusion To our knowledge, our clinical report is of significance as it is the third kindred to be identified with affected members with two distinct genetic etiologies for TSC. Our case report highlights the importance of incorporating genetic testing into the clinical evaluation for individuals with features suggestive of TSC. Our clinical report is of significance as no other family has been reported in the medical literature with two clinical individuals with tuberous sclerosis complex (TSC) caused by two distinct genetic etiologies. Patient 2 is the paternal great‐uncle to Patient 1, yet they have different pathogenic variants in TSC2. This report highlights the importance of incorporating genetic testing into the clinical evaluation for individuals with features suggestive of TSC.
Journal Article
Measuring the Prevalence of Children at Risk Using Parents’ Evaluation of Developmental Status in a Telephone Survey
This study determined the reliability and feasibility of adding a validated parent-report screening tool to a public health telephone survey to estimate the prevalence of children at risk for developmental problems. Adults with children (0 to 6 years) in three public health regions in Ontario, Canada, were surveyed by telephone using the Parents’ Evaluation of Developmental Status (PEDS) tool; a 10-item screening measure that involves eliciting, categorizing and weighing parents’ concerns about their children. In Phase 1, responses to the PEDS were taped and reviewed by an expert in the PEDS and child development. Lay telephone interviewers’ and the expert’s PEDS scores were compared. In Phase 2, participants were mailed the PEDS for written completion; written scores were compared to telephone interview scores. Reliability was assessed by agreement and Kappa statistics. In Phase 1, overall agreement was 0.83, with weighted kappas = 0.74–0.78, indicating good-to-excellent agreement between scores generated from trained lay interviewers and those from the expert. In Phase 2, overall agreement was 0.69, with weighted kappas = 0.59–0.62, representing fair-to-good agreement between telephone and written modes of administration. Telephone administration of PEDS tended to identify lower risk levels than written administration. The average time spent collecting information over the telephone was less than two minutes. The PEDS can feasibly and reliably be added to a telephone-based health surveillance system to assess the prevalence of children at risk for developmental problems. Training requirements for lay interviewers were acceptable and they were able to code developmental information with a high degree of reliability.
Journal Article