- |||||||||| Journal: Maternal Thyroid Hormone is Required for Parvalbumin Neuron Development in the Anterior Hypothalamic Area. (Pubmed Central) - Oct 18, 2019
Our findings therefore for the first time directly link a maternal hormone to a neuroanatomical substrate in the fetal brain, and underline the importance of proper TH signaling during pregnancy for offspring mental health. Given the role of hypothalamic parvalbumin neurons in the central control of blood pressure, the study advocates the inclusion of cardiovascular parameters in the current discussion on possible TH substitution in maternal hypothyroxinemia.
- |||||||||| Journal: Beyond autophagy: a novel role for autism-linked Wdfy3 in brain mitophagy. (Pubmed Central) - Oct 18, 2019
These observations, extended through proteomic analysis of mitochondria-enriched cortical fractions, showed significant enrichment for pathways associated with mitophagy, mitochondrial transport and axon guidance via semaphorin, Robo, L1cam and Eph-ephrin signaling. Collectively, our findings support a critical role for Wdfy3 in mitochondrial homeostasis with implications for neuron differentiation, neurodevelopment and age-dependent neurodegeneration.
- |||||||||| Journal: CTCF governs the identity and migration of MGE-derived cortical interneurons. (Pubmed Central) - Oct 18, 2019
Collectively, these data indicate that CTCF regulates the dichotomy between Lhx6 and Lhx8 to achieve correct specification and migration of MGE-derived CIN.SIGNIFICANCE STATEMENTThis work provides evidence that CTCF controls an early fate decision point in the generation of CIN mediated at least in part by Lhx6. Importantly, the abnormalities described could reflect early molecular and cellular events that contribute to human neurological disorders previously linked to CTCF, including schizophrenia, autism and intellectual disability.
- |||||||||| Clinical, Journal: The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome. (Pubmed Central) - Oct 18, 2019
We found no difference in FSIQ between the hypocalcemic and non-hypocalcemic patients with 22q11.2DS. As our findings differ from a previous report in adult subjects, we speculate that this may reflect a potential benefit from early treatment of hypocalcemia and may support early 22q11.2 deletion detection in order to offer prompt diagnosis and subsequent treatment of hypocalcemia.
- |||||||||| vigabatrin / Generic Mfg.
Clinical, Journal: Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC) (Pubmed Central) - Oct 17, 2019
The ocular phenotype in our patient cohort shows similar TSC involvement to that described in the literature. Patients diagnosed with TSC require regular ophthalmic examinations to diagnose secondary ocular complications, such as papilloedema, severe vision loss or visual field constriction.
- |||||||||| Trial completion date, Trial primary completion date, HEOR, Cost effectiveness: SelFIT: Internet-based Treatment for Adjustment Problems After an Accident (clinicaltrials.gov) - Oct 17, 2019
P=N/A, N=240, Not yet recruiting,
Patients diagnosed with TSC require regular ophthalmic examinations to diagnose secondary ocular complications, such as papilloedema, severe vision loss or visual field constriction. Trial completion date: Jun 2020 --> Jan 2021 | Trial primary completion date: Jun 2020 --> Oct 2020
- |||||||||| Review, Journal: Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations. (Pubmed Central) - Oct 17, 2019
In the brain, the main ELOVL4 products are VLC-SFA that are incorporated into sphingolipids and enriched in synaptic vesicles, where they regulate kinetics of presynaptic neurotransmitter release. Understanding the function of ELOVL4 and its VLC-SFA and VLC-PUFA products will advance our understanding of basic mechanisms in neural signaling and has potential for developing novel therapies for seizure and neurodegenerative diseases.
- |||||||||| Vraylar (cariprazine) / Mitsubishi Tanabe, Recordati, Gedeon Richter, Allergan, aripiprazole / Generic Mfg., risperidone / Generic Mfg., Egis
Cariprazine Alleviates Core Behavioral Deficits in the Prenatal Valproic Acid Exposure Model of Autism Spectrum Disorder (Floridian Ballroom) - Oct 17, 2019 - Abstract #ACNP2019ACNP_1098;
Risperidone and aripiprazole were inactive in the social play paradigm, though they behaved similarly to cariprazine on other endpoints. This differentiation of cariprazine from the other two compounds is of particular importance, considering that social play is also a principal indicator of healthy development in humans, and social play is the earliest form of social behavior directed towards peers and not the mother.
- |||||||||| Exaggerated Theta-Gamma Phase Amplitude Coupling (PAC) in Fragile X Syndrome (Floridian Ballroom) - Oct 17, 2019 - Abstract #ACNP2019ACNP_1009;
P2
Data from a large cohort of FXS subjects demonstrate that PAC may represent a non-invasive biomarker of putative network abnormalities and can be sensitive to drug response. To the degree that such measures can reflect the degree of clinical symptomatology, such a biomarker could be a control signal for pharmacotherapy, brain stimulation, or behavioral therapy.
- |||||||||| What Should the General Psychiatrist Know About Genetics? (Bonnet Creek X) - Oct 17, 2019 - Abstract #ACNP2019ACNP_887;
This study group will attempt to define a core set of information critical to psychiatrists and psychiatric training. This core information should reflect both the current knowledge of psychiatric genetics, and it should prepare the physician to use future tools for the benefits of patients.
- |||||||||| Sleep in Autism Spectrum Disorder Without Intellectual Disability (Floridian Ballroom) - Oct 17, 2019 - Abstract #ACNP2019ACNP_390;
Thus far, we have found differences in sleep in individuals with ASD w/o ID compared to those without ASD. We have additionally shown that social impairment could play a role in sleep dysfunction.
- |||||||||| Striatal Role of the Fragile X Mental Retardation Protein in Synapse Regulation (Floridian Ballroom) - Oct 17, 2019 - Abstract #ACNP2019ACNP_231;
In contrast, previous work suggests that FMRP stabilizes early hippocampal connections but shifts to driving synapse elimination at more mature time points. While a direct comparison is needed, these results suggest a different basal role for FMRP in these two brain regions, possibly determined by activity levels.
- |||||||||| The Contribution of Abnormal Sleep to Neurodevelopmental Disorders (Bonnet Creek XI) - Oct 17, 2019 - Abstract #ACNP2019ACNP_157;
Finally, Dr. Manoach will be presenting unpublished data on a home sleep study of children (24 ASD; 18 neurotypical controls) showing deficits in the coordination of spindles and slow waves in ASD as well as preliminary data on the effects of closed-loop auditory stimulation on spindle density and coordination of slow waves in healthy individuals.
- |||||||||| Clinical, Observational data, Journal: Longitudinal study of driver licensing rates among adolescents and young adults with autism spectrum disorder. (Pubmed Central) - Oct 16, 2019
The vast majority (89.7%) of those with autism spectrum disorder who acquired a permit and were fully eligible to get licensed acquired a license within 2 years. Results indicated that a substantial proportion of adolescents with autism spectrum disorder do get licensed and that license-related decisions are primarily made prior to acquisition of a permit instead of during the learning-to-drive process.
- |||||||||| Journal: General practice encounters for young patients with autism spectrum disorder in Australia. (Pubmed Central) - Oct 16, 2019
At autism spectrum disorder (vs non-autism spectrum disorder) encounters, there were more psychological, general and unspecified, and social reasons for encounter and fewer preventive and acute health reasons for encounter. People with an autism spectrum disorder have complex health care needs that require a skilled general practice workforce.
- |||||||||| Clinical, Journal: Visual-spatial cognition in children using aided communication. (Pubmed Central) - Oct 16, 2019
This may reflect less experience with object manipulation and construction than children with typical development, and using aided communication to instruct others to make three-dimensional constructions. The results imply a need for interventions that compensate for the lack of relevant experience.
- |||||||||| Journal: Novel West syndrome candidate genes in a Chinese cohort. (Pubmed Central) - Oct 16, 2019
This is the first WES study of Chinese WS patients with unknown etiology. This combination of phenotypic and genomic data will enable further testing to elucidate mechanisms underlying the pathogenesis of WS.
- |||||||||| Journal: Hyperactivity of Rac1-GTPase pathway impairs neuritogenesis of cortical neurons by altering actin dynamics. (Pubmed Central) - Oct 16, 2019
Functionally, ArhGAP15 mice exhibit decreased synaptic density, altered electroencephalographic rhythms and cognitive deficits. These data suggest that both hypo- and hyperactivation of the Rac pathway due to mutations in Rac1 regulators can result in conditions of ID, and that a tight regulation of Rac1 activity is required to attain the full complexity of the cortical networks.
- |||||||||| Journal: An unusual presentation of Dyke-Davidoff Masson syndrome. (Pubmed Central) - Oct 16, 2019
It is important to recognize the clinical and radiological features of this condition for the neurologists as well as the radiologists. We are discussing our case as this patient presented very late although his symptoms seem to present since his birth which is very unusual with this disorder.
- |||||||||| Journal: Phosphorylation of the neurogenic transcription factor SOX11 on serine 133 modulates neuronal morphogenesis. (Pubmed Central) - Oct 16, 2019
In vivo replacement of SoxC factors in developing adult-generated hippocampal neurons with SOX11 S133 phospho-mutants indicated that phosphorylation on S133 modulates dendrite development of adult-born dentate granule neurons, while reporter assays suggested that S133 phosphorylation fine-tunes the activation of select target genes. These data provide novel insight into the control of the critical neurodevelopmental regulator SOX11 and imply SOX11 as a mediator of PKA-regulated neuronal development.
- |||||||||| Journal: Asymmetry of Periodic Leg Movements in Sleep (PLMS) in Parkinson's Disease. (Pubmed Central) - Oct 15, 2019
The severity of the comorbidity burden associated with premature ageing in adults with ASD and ID highlight their crucial need of personalized medical care. Only the minority of PD patients shows asymmetric PLMS distribution with relatively high night-to-night stability but no correlation with motor symptom asymmetry.
- |||||||||| Trial initiation date: PLANCO-ISO: Impact of Joint Crisis Plan (clinicaltrials.gov) - Oct 15, 2019
P=N/A, N=96, Not yet recruiting,
Trial completion date: Dec 2020 --> Dec 2019 | Trial primary completion date: Jan 2019 --> Dec 2019 Initiation date: Sep 2019 --> Dec 2019
- |||||||||| Topical Vitamin A Ointment-Induced Hypercalcemia and Renal Stones in CKD (Exhibit Hall, Walter E. Washington Convention Center) - Oct 14, 2019 - Abstract #KIDNEYWEEK2019KIDNEY_WEEK_1533;
Vitamin A toxicity should be considered in the differential diagnosis of hypercalcemia and clinicians should be aware of the potential of vitamin A containing preparations causing hypercalcemia, especially in CKD populations. Our case highlights the importance of a thorough review of medications, including over the counter and topical medications in workup of hypercalcemia.
- |||||||||| Journal: Syndromes of Resistance to Thyroid Hormone Action. (Pubmed Central) - Oct 12, 2019
As a consequence, thyroid hormone actions are impaired at the tissue level. The phenotypic manifestations of RTHβ and RTHα are to some extent correlated with the degree of disruption and the tissue distribution of the TRs being characterized by variable coexistence of hypothyroid or thyrotoxic manifestations in RTHβ or by a congenital hypothyroid features in RTHα despite normal TSH and borderline low free T4.
- |||||||||| Journal: Genetics of Obesity. (Pubmed Central) - Oct 12, 2019
For other disorders, obesity is part of a distinct combination of other clinical features such as intellectual disability, dysmorphic facial features, or organ abnormalities. This chapter focuses on genetic obesity disorders and also summarizes the present knowledge on the genetics of the more common polygenic/multifactorial obesity.
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