Publications by authors named "David Germanaud"

Article Synopsis
  • Early-onset restrictive eating disorders (rEO-ED), including early-onset anorexia nervosa (EO-AN) and avoidant restrictive food intake disorders (ARFID), have unknown impacts on brain development.
  • A study comparing brain features through MRI in children under 13 with EO-AN, ARFID, and typically developing peers revealed differing brain structures despite similar BMI, indicating unique brain mechanisms for each disorder.
  • Findings suggest EO-AN is linked to thinner cortex structures, while ARFID patients showed reduced surface area and subcortical volume, highlighting the need for further research on the relationship between low BMI and neurodevelopmental impacts in eating disorders.
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Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERF and showing a phenotype reminiscent of NS.

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  • The study analyzes data from two groups of individuals with DDX3X variations, one from physicians (48 individuals) and the other from caregivers (44 individuals).
  • The results reveal shared symptoms between the two groups, including previously unreported early childhood issues like feeding difficulties and delayed developmental milestones.
  • The discussion emphasizes that both datasets complement each other, highlighting the importance of addressing symptoms such as ADHD, anxiety, and sleep disturbances in affected individuals.
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Introduction: Fetal alcohol spectrum disorders (FASD) range from fetal alcohol syndrome (FAS) to non-syndromic forms (NS-FASD). The neuroanatomical consequences of prenatal alcohol exposure are mainly the reduction in brain size, but also focal abnormalities such as those of the corpus callosum (CC). We previously showed a narrowing of the CC for brain size, using manual measurement and its usefulness to improve diagnostic certainty.

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  • The study investigates repetitive and restricted behaviors and interests (RRBI) in autism, classifying them into 'motor-driven' and 'cognitively driven' categories while considering the roles of clinical contexts and neuroanatomy.
  • Researchers analyzed data from 792 participants, including autistic individuals, their relatives, and typically developing individuals, using standardized scales and MRI to assess RRBI patterns and brain volumes.
  • The analysis revealed three main RRBI factors, with 'motor-driven' symptoms linked to lower putamen volumes, while 'cognitively driven' symptoms showed different associations with brain structure, highlighting the complexity of RRBI in autism.
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: Fetal Alcohol Spectrum Disorders (FASD) are characterized by a variety of multiple cognitive and behavioral impairments, with intellectual, attentional, and executive impairments being the most commonly reported. In populations with multiple neurodevelopmental disorders, the Full Scale Intelligence Quotient (FSIQ) may not be a proper measure of intellectual abilities, rarely interpreted in FASD clinical practice because the heterogeneity of the cognitive profile is deemed too strong. We propose a quantitative characterization of this heterogeneity, of the strengths and weaknesses profile, and a differential analysis between global cognitive (FSIQ) and elementary reasoning abilities in a large retrospective monocentric FASD sample.

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Article Synopsis
  • Fetal alcohol spectrum disorders (FASD) are conditions caused by drinking alcohol during pregnancy, affecting brain development, and can show up in many ways from mild to severe.
  • Researchers studied brain scans of kids and young adults with FASD and compared them to those without the condition, to see how their brains were different.
  • They found that parts of the brain called the corpus callosum (CC) were smaller in those with FASD, especially in specific areas, suggesting that there may be helpful markers in brain scans for diagnosing these disorders.
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In fetal alcohol spectrum disorders (FASD), brain growth deficiency is a hallmark of subjects both with fetal alcohol syndrome (FAS) and with non-syndromic FASD (NS-FASD, i.e., those without specific diagnostic features).

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Aim: To identify subtypes of developmental coordination disorder (DCD) in children.

Method: Children with DCD diagnosed through comprehensive evaluation at Robert-Debré Children's University Hospital (Paris, France) were consecutively enrolled from February 2017 to March 2020. We performed an unsupervised hierarchical clustering based on principal component analysis using a large set of variables encompassing cognitive, motor, and visuospatial scores (Wechsler Intelligence Scale for Children, Fifth Edition; Developmental Neuropsychological Assessment, Second Edition; Movement Assessment Battery for Children, Second Edition).

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  • The study investigates sensory processing issues in autistic individuals, focusing on hypo and hyper-sensory sensitivities potentially linked to genetic factors affecting GABA-ergic and glutamatergic pathways.
  • Researchers analyzed the sensory profiles of 1136 participants (including autistic individuals, relatives, and controls) and found significant differences in sensory processing between these groups, with variability being a key factor.
  • While the new differential Short Sensory Profile (dSSP) provided useful insights, it struggled to distinguish between individuals with similar sensory symptom levels, suggesting a need for combining this score with genetic and other sensory assessments for better understanding of sensory processing in autism.
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Aim: To identify easily accessible neuroanatomical abnormalities useful for diagnosing fetal alcohol spectrum disorders (FASD) in fetal alcohol syndrome (FAS) but more importantly for the probabilistic diagnosis of non-syndromic forms (NS-FASD).

Method: We retrospectively collected monocentric data from 52 individuals with FAS, 37 with NS-FASD, and 94 paired typically developing individuals (6-20 years, 99 males, 84 females). On brain T1-weighted magnetic resonance imaging, we measured brain size, corpus callosum length and thicknesses, vermis height, then evaluated vermis foliation (Likert scale).

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  • Over 2,000 individuals' MRI data was used in an international challenge where 146 teams submitted algorithms to improve prediction accuracy, achieving an AUC of ~0.80 with the best models.
  • Functional MRI was found to be more significant than anatomical MRI for predictions, and larger sample sizes improved accuracy; however, challenges with overfitting and lower accuracy when tested on new datasets highlighted the fragility of the biomarkers developed.
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Background And Objectives: We aimed to analyze the epidemiologic, clinical, and paraclinical features of adolescents with cerebral venous thrombosis (CVT) and its therapeutic management and outcome.

Methods: This multicenter retrospective cohort included patients 10 to 18 years of age hospitalized for a first episode of CVT in 2 French regions between 1999 and 2019. The number of cases was compared to the number recorded by the French health insurance system.

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Backgrounds: At birth, only complete Fetal Alcohol Syndrome (FAS) can be properly diagnosed. However, other Consequences of prenatal Alcohol Exposure (CAE) can also be recorded. Our objective was to describe the frequency of diagnoses highly suggestive of "potential Fetal Alcohol Syndrome Disorder" (pFASD, i.

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Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hindering early recognition of patients. In this study, we established the largest cohort of HSMR to date, aiming to improve recognition and diagnosis of this complex disorder.

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Despite evidence for a difference in total brain volume between dyslexic and good readers, no previous neuroimaging study examined differences in allometric scaling (i.e. differences in the relationship between regional and total brain volumes) between dyslexic and good readers.

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The Renpenning syndrome spectrum is a rare X-linked mental retardation syndrome characterized by intellectual disability, microcephaly, low stature, lean body and hypogonadism. Mutations in the polyglutamine tract binding protein 1 (PQBP1) locus are causative for disease. Here, we describe the generation of an iPSC line from a patient mutated in the polar amino acid-rich domain of PQBP1 resulting in a C-terminal truncated protein (c.

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CADASIL is a monogenic small vessel disease characterized by the accumulation of brain tissue lesions of microvascular origin leading to strokes and cognitive deficits. Both cortical and parenchymal alterations have been described using various MRI markers. However, relationships between cortical and subcortical alterations remain largely unexplored.

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While low plasma melatonin, a neuro-hormone synthesized in the pineal gland, has been frequently associated with autism, our understanding of the mechanisms behind it have remained unclear. In this exploratory study, we hypothesized that low melatonin levels in ASD could be linked to a decrease of the pineal gland volume (PGV). PGV estimates with magnetic resonance imaging (MRI) with a voxel-based volumetric measurement method and early morning plasma melatonin levels were evaluated for 215 participants, including 78 individuals with ASD, 90 unaffected relatives, and 47 controls.

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The hippocampus and the adjacent perirhinal, entorhinal, temporopolar, and parahippocampal cortices are interconnected in a hierarchical MTL system crucial for memory processes. A probabilistic description of the anatomical location and spatial variability of MTL cortices in the child and adolescent brain would help to assess structure-function relationships. The rhinal sulcus (RS) and the collateral sulcus (CS) that border MTL cortices and influence their morphology have never been described in these populations.

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There is no consensus in the literature concerning the presence of abnormal alpha wave profiles in patients with autism spectrum disorder (ASD). This may be due to phenotypic heterogeneity among patients as well as the limited sample sizes utilized. Here we present our results of alpha wave profile analysis based on a sample larger than most of those in the field, performed using a robust processing pipeline.

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Objective: HIV infection is associated with cognitive impairments, but outcomes are poorly explored in children starting antiretroviral therapy (ART) early or in those exposed but uninfected.

Design: Nested cross-sectional evaluation of the neurocognitive and behavioural outcomes of HIV-infected, HIV-exposed uninfected (HEU) and HIV-unexposed (HUU) Cameroonian children at age 4-9 years prospectively followed.

Methods: Cognitive development was assessed in 127 HIV-infected, 101 HEU, 110 HUU children using the KABC-II, neurologic dysfunction using the Touwen examination and behavioural difficulties using the Strength and Difficulties Questionnaire (SDQ).

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Understanding the link between structure, function and development in the brain is a key topic in neuroimaging that benefits from the tremendous progress of multi-modal MRI and its computational analysis. It implies, , to be able to parcellate the brain volume or cortical surface into biologically relevant regions. These parcellations may be inferred from existing atlases (e.

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