Literature DB >> 26042909

Neonatal hypotonia.

Susan E Sparks1.   

Abstract

Neonatal hypotonia is a common problem in the neonatal intensive care unit. The genetic differential diagnosis is broad, encompassing primary muscular dystrophies, chromosome abnormalities, neuropathies, and inborn errors of metabolism. Recognition of hypotonia is relatively straightforward, but determining the cause can be challenging. It is important for the neonatologist to have an organized approach to the assessment of neonatal hypotonia. Physical examination and history alongside basic laboratory testing and imaging aid in the differential diagnosis. Identification of the cause is essential for determining prognosis, associated morbidities, and recurrence risk. The prevailing therapeutic modality is physical, occupational, speech/feeding, and respiratory therapy.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Congenital; Hypotonia; Muscular dystrophy; Myotonia; Syndrome; Weakness

Mesh:

Year:  2015        PMID: 26042909     DOI: 10.1016/j.clp.2015.02.008

Source DB:  PubMed          Journal:  Clin Perinatol        ISSN: 0095-5108            Impact factor:   3.430


  9 in total

1.  Divergent Mechanisms Leading to Signaling Dysfunction in Embryonic Muscle by Bisphenol A and Tetrabromobisphenol A.

Authors:  Rui Zhang; Isaac N Pessah
Journal:  Mol Pharmacol       Date:  2017-01-31       Impact factor: 4.436

2.  Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method.

Authors:  Damla Eker; Hakan Gurkan; Yasemin Karal; Sinem Yalcintepe; Selma Demir; Engin Atli; Serap T Karasalihoglu
Journal:  Glob Med Genet       Date:  2022-07-15

Review 3.  Congenital muscular dystrophy: from muscle to brain.

Authors:  Raffaele Falsaperla; Andrea D Praticò; Martino Ruggieri; Enrico Parano; Renata Rizzo; Giovanni Corsello; Giovanna Vitaliti; Piero Pavone
Journal:  Ital J Pediatr       Date:  2016-08-31       Impact factor: 2.638

4.  Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy.

Authors:  Cheonga Yee; Suk-Joo Choi; Soo-Young Oh; Chang-Seok Ki; Cheong-Rae Roh; Jong-Hwa Kim
Journal:  Obstet Gynecol Sci       Date:  2017-07-14

5.  The Severity of Neurological Dysfunction in Preschool Children, Secondary to Damage Generated During the Perinatal Period, is Associated With a Pro-Inflammatory Pattern of Serum Molecules.

Authors:  Miriam Madrid; Malinalli Brianza-Padilla; Juan C Echeverría; Rolando Rivera-González; Rafael Bojalil
Journal:  Front Immunol       Date:  2021-01-28       Impact factor: 7.561

6.  Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants.

Authors:  Limor Kalfon; Meirav Baydany; Nadra Samra; Nawaf Heno; Zvi Segal; Ayelet Eran; Alon Yulevich; Yakov Fellig; Hanna Mandel; Tzipora C Falik-Zaccai
Journal:  Mol Genet Genomic Med       Date:  2021-12-31       Impact factor: 2.183

7.  Diagnostic yield of genetic testing in 324 infants with hypotonia.

Authors:  Sonal Sharma; Elena Repnikova; Janelle R Noel-MacDonnell; Jean-Baptiste LePichon
Journal:  Clin Genet       Date:  2021-09-16       Impact factor: 4.296

Review 8.  Nursing Interventions That Promote Sleep in Preterm Newborns in the Neonatal Intensive Care Units: An Integrative Review.

Authors:  Catarina Firmino; Marlene Rodrigues; Sofia Franco; Judicília Ferreira; Ana Rita Simões; Cidália Castro; Júlio Belo Fernandes
Journal:  Int J Environ Res Public Health       Date:  2022-09-02       Impact factor: 4.614

9.  Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.

Authors:  Eleanor Hay; Louise C Wilson; Bethan Hoskins; Martin Samuels; Pinki Munot; Shamima Rahman
Journal:  Eur J Hum Genet       Date:  2021-07-20       Impact factor: 4.246

  9 in total

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