Advances in the Cognitive Neuroscience of Neurodevelopmental Disorders: Views from Child Psychiatry and Medical Genetics

1999 ◽  
Keyword(s):  
Child Psychiatry ◽  
Cognitive Neuroscience ◽  
Neurodevelopmental Disorders ◽  
Medical Genetics

The neural reuse hypothesis

2020 ◽  
Author(s):  
Vicente Raja ◽  
Marcie Penner ◽  
Lucina Q. Uddin ◽  
Michael L. Anderson
Keyword(s):  
Cognitive Neuroscience ◽  
Neurodevelopmental Disorders ◽  
Skill Learning ◽  
Brain Dynamics ◽  
Developmental Study ◽  
Future Directions ◽  
Neural Reuse ◽  
The Brain ◽  
Do So ◽  
Developmental Cognitive Neuroscience

In this chapter, the authors propose neural reuse as a promising unifying framework for the advance of developmental cognitive neuroscience. In order to do so, first, the authors describe the hypothesis of neural reuse and some of the evidence for its importance to and impact on the development of the brain. Then, the authors compare neural reuse with the three prominent frameworks in contemporary developmental cognitive neuroscience—maturational viewpoint, interactive specialization, and skill learning—and show how neural reuse can accommodate their virtues while avoiding their shortcomings. After that, the authors explore some of the implications of neural reuse for the developmental study of math cognition, brain dynamics, and neurodevelopmental disorders. Finally, the authors sketch some future directions of research and some specific research suggestions.

scholarly journals Administration of a long-acting antipsychotic injection to a child while managing contraindicated polypharmacy interactions and transition between services

2019 ◽  
Vol 12 (6) ◽  
pp. e228509 ◽  
Author(s):  
Gazala Akram ◽  
Fiona Mitchell
Keyword(s):  
Mental Health ◽  
Professional Development ◽  
Child Psychiatry ◽  
Neurodevelopmental Disorders ◽  
Second Generation ◽  
Psychiatric Symptoms ◽  
Second Generation Antipsychotics ◽  
P450 Enzyme ◽  
Long Acting ◽  
Behavioural Aspects

Second-generation antipsychotics are used to treat a variety of psychiatric symptoms and illnesses as well as the behavioural aspects of various neurodevelopmental disorders. However, there is reluctance in using second-generation long-acting injectable antipsychotics in child psychiatry services. We present a case of a 12-year-old child whose presentation and medication regime warranted the use of aripiprazole long-acting injection against a backdrop of potential CYP P450 enzyme interactions as a consequence of polypharmacy. The case also describes the difficulties encountered working across different health sectors and agencies and highlights the ongoing need for skills-based Continuous Professional Development for Child and Adolescent Mental Health Services-based nursing staff.

scholarly journals Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing

Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 379
Author(s):  
Pietro Palumbo ◽  
Orazio Palumbo ◽  
Maria Pia Leone ◽  
Ester di Muro ◽  
Stefano Castellana ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Neurodevelopmental Disorders ◽  
Snp Array ◽  
Integrated Approach ◽  
Medical Genetics ◽  
Global Developmental Delay ◽  
Facial Dysmorphism ◽  
Whole Exome ◽  
Number Of Patients

Neurodevelopmental disorders are a challenge in medical genetics due to genetic heterogeneity and complex genotype-phenotype correlations. For this reason, the resolution of single cases not belonging to well-defined syndromes often requires an integrated approach of multiple whole-genome technologies. Such an approach has also unexpectedly revealed a complex molecular basis in an increasing number of patients, for whom the original suspect of a pleiotropic syndrome has been resolved as the summation effect of multiple genes. We describe a 10-year-old boy, the third son of first-cousin parents, with global developmental delay, facial dysmorphism, and bilateral deafness. SNP-array analysis revealed regions of homozygosity (ROHs) in multiple chromosome regions. Whole-exome sequencing prioritized on gene-mapping into the ROHs showed homozygosity for the likely pathogenic c.1097_1098delAG p. (Arg366Thrfs*2) frameshift substitution in LARP7 and the likely pathogenic c.5743C>T p.(Arg1915*) nonsense variant in OTOG. Recessive variants in LARP7 cause Alazami syndrome, while variants in OTOG cause an extremely rare autosomal recessive form of neurosensorial deafness. Previously unreported features were acrocyanosis and palmoplantar hyperhidrosis. This case highlights the utility of encouraging technological updates in medical genetics laboratories involved in the study of neurodevelopmental disorders and integrating laboratory outputs with the competencies of next-generation clinicians.

Normocentric biases taint cognitive neuroscience and intervention of autism

2019 ◽  
Vol 42 ◽  
Author(s):  
Laurent Mottron
Keyword(s):  
Intellectual Disability ◽  
Cognitive Neuroscience ◽  
Social Motivation ◽  
Repetitive Behaviors ◽  
Restricted Interests ◽  
Autistic People

Abstract Stepping away from a normocentric understanding of autism goes beyond questioning the supposed lack of social motivation of autistic people. It evokes subversion of the prevalence of intellectual disability even in non-verbal autism. It also challenges the perceived purposelessness of some restricted interests and repetitive behaviors, and instead interprets them as legitimate exploratory and learning-associated manifestations.

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