Development and Developmental Disorders of the Brain Stem

Donkelaar, Hans J. ten; Cruysberg, J.R.M.; Pennings, Ronald J.E.; Lammens, Martin

doi:10.1007/978-3-642-54687-7_7

Cited by 9 publications

(3 citation statements)

References 295 publications

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“…Principal morphological changes in the embryonic brainstem in multiple organisms buds during the first trimester of pregnancy ( ten Donkelaar et al, 2014 ). Animal models indicate that the genesis of motoneurons in rhombomeres 7 and 8 commence approximately at the fourth week of fetal life; these neurons subsequently migrate and form the vagal nerve nuclei, including the dorsal motor nucleus, nucleus ambiguus, solitary tract nucleus, and spinal trigeminal nucleus ( ten Donkelaar et al, 2014 ; Watson et al, 2019 ). The neural functionality of brainstem pathways is noted from early gestational stages ( Glover et al, 2008 ; Marrs and Spirou, 2012 ).…”

Section: The Formation Of Brainstem Networkmentioning

confidence: 99%

“…, above 0.2 Hz) frequencies ( Longin et al, 2006 ). Similar neuro-maturational processes involving the birth of neurons in hindbrain rhombomeres and mesencephalic neuromeres, neurons migration, and axonal navigation contribute to the formation of the cranial nerves sensorimotor nuclei in the brainstem from Carnegie stage 12 ( O’Rahilly and Müller, 2006 ; ten Donkelaar et al, 2014 ). These structures support auditory, ocular, tactile, gustatory, and olfaction development and shape motor reactivity in a progressive fashion.…”

Section: The Formation Of Brainstem Networkmentioning

confidence: 99%

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The Brainstem-Informed Autism Framework: Early Life Neurobehavioral Markers

Burstein

Geva

2021

Front. Integr. Neurosci.

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Autism spectrum disorders (ASD) have long-term implications on functioning at multiple levels. In this perspective, we offer a brainstem-informed autism framework (BIAF) that traces the protracted neurobehavioral manifestations of ASD to early life brainstem dysfunctions. Early life brainstem-mediated markers involving functions of autonomic/arousal regulation, sleep-wake homeostasis, and sensorimotor integration are delineated. Their possible contributions to the early identification of susceptible infants are discussed. We suggest that the BIAF expands our multidimensional understanding of ASD by focusing on the early involvement of brainstem systems. Importantly, we propose an integrated BIAF screener that brings about the prospect of a sensitive and reliable early life diagnostic scheme for weighing the risk for ASD. The BIAF screener could provide clinicians substantial gains in the future and may carve customized interventions long before the current DSM ASD phenotype is manifested using dyadic co-regulation of brainstem-informed autism markers.

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Section: The Formation Of Brainstem Networkmentioning

confidence: 99%

Section: The Formation Of Brainstem Networkmentioning

confidence: 99%

The Brainstem-Informed Autism Framework: Early Life Neurobehavioral Markers

Burstein

Geva

2021

Front. Integr. Neurosci.

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“…ATP1A3 is also highly expressed in brainstem nuclei. 25 Given that congenital cranial nerve pathology has been shown to result in facial dysmorphism, 27 and that ATP1A3 is also expressed in utero, 26 this could potentially be the underlying mechanism behind the facial dysmorphic features observed in our patients. Also, given the increasing availability of the gene panel and whole-exome sequencing testing coupled with increasing awareness of phenotypes caused by ATP1A3 mutations, it is evident that the spectrum of manifestations secondary to these mutations will continue to grow.…”

Section: Discussionmentioning

confidence: 92%

D-DEMØ, a distinct phenotype caused by ATP1A3 mutations

et al. 2020

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ObjectiveTo describe a phenotype caused by ATP1A3 mutations, which manifests as dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ø) (D-DEMØ), and neonatal onset.MethodsReview and analysis of clinical and genetic data.ResultsPatients shared the above traits and had whole-exome sequencing that showed de novo variants of the ATP1A3 gene, predicted to be disease causing and occurring in regions of the protein critical for pump function. Patient 1 (c.1079C>G, p.Thr360Arg), an 8-year-old girl, presented on day 1 of life with episodic dystonia, complex partial seizures, and facial dysmorphism. MRI of the brain revealed cerebellar hypoplasia. Patient 2 (c.420G>T, p.Gln140His), an 18-year-old man, presented on day 1 of life with hypotonia, tremor, and facial dysmorphism. He later developed dystonia. MRI of the brain revealed cerebellar hypoplasia and, later, further cerebellar volume loss (atrophy). Patient 3 (c.974G>A, Gly325Asp), a 13-year-old girl, presented on day 1 of life with tremor, episodic dystonia, and facial dysmorphism. MRI of the brain showed severe cerebellar hypoplasia. Patient 4 (c.971A>G, p.Glu324Gly), a 14-year-old boy, presented on day 1 of life with tremor, hypotonia, dystonia, nystagmus, facial dysmorphism, and later seizures. MRI of the brain revealed moderate cerebellar hypoplasia.ConclusionsD-DEMØ represents an ATP1A3-related phenotype, the observation of which should trigger investigation for ATP1A3 mutations. Our findings, and the presence of multiple distinct ATP1A3-related phenotypes, support the possibility that there are differences in the underlying mechanisms.

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Overview of the Human Brain and Spinal Cord

Donkelaar¹

2020

Clinical Neuroanatomy

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Development and Developmental Disorders of the Brain Stem

Cited by 9 publications

References 295 publications

The Brainstem-Informed Autism Framework: Early Life Neurobehavioral Markers

The Brainstem-Informed Autism Framework: Early Life Neurobehavioral Markers

D-DEMØ, a distinct phenotype caused by ATP1A3 mutations

Overview of the Human Brain and Spinal Cord

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