The Competent Newborn and the Neonatal Behavioral Assessment Scale: T. Berry Brazelton's Legacy

This article celebrates Berry Brazelton's extraordinary contribution to our understanding of child development by focusing on two representative themes. The first is that newborns are competent and organized from the very beginning and that the neonate is in a dynamic rather than passive relationship with the environment. The second is the recognition that the newborn period is an extremely sensitive stage in the transition to parenthood and as such may be the intervention “touchpoint” par excellence for professionals who are dedicated to giving children and families the best possible start in life.     

NBAS基因变异所致疾病研究进展

NBAS(GenBank: NM_015909.3;OMIM 608025)基因变异目前被发现可导致两种疾病.2010年Maksimova等[1]通过对俄罗斯东部31个雅库特家庭中的34例患者研究分析后,首次发现并报告了NBAS基因变异会导致SOPH综合征(OMIM 614800),主要表现为矮小、视神经萎缩和Pelg...     

Clinical features and genetic testing of a child with hepatic failure syndrome type 2CSCD

Objective To explore the genetic basis for a child with infantile liver failure syndrome type 2 (ILFS type 2). Methods Clinical features of the child were analyzed. Next generation sequencing was also carried out for him. Results The child was found to harbor compound heterozygous variants of the NBAS gene, which included a novel nonsense c. 2746A>T (p.R916X, 1456) variant in exon 24 and a missense c. 3596G>A (p.C1199Y) mutation in exon 31, which has been associated with ILFS type 2. The two variants were respectively inherited from his father and mother. Conclusion The compound heterozygous variants of c. 3596G>A and c. 2746A>T of the NBAS gene probably underlay the ILFS type 2 in this child. © 2022 West China University of Medical Sciences. All rights reserved.     

Brief report: newborn behavior differs with decosahexaenoic acid levels in breast milk

OBJECTIVE: To assess whether natural variations in decosahexaenoic acid (DHA) levels in breast milk would relate to infant neurobehavioral outcomes at the newborn stage following equivocal findings on infant and toddler outcomes of exposure to DHA in formula and breast milk. METHODS: Breast milk samples from N = 20 mothers were collected 9 days after delivery, while the Brazelton Neonatal Behavioral Assessment Scale (NBAS) was administered on the infant. Milk samples were later analyzed for fatty acids, including DHA. RESULTS: Pearson correlations revealed a positive association between DHA concentrations in breast milk and infants' scores on the NBAS Range of State cluster score, suggesting that DHA is related to the infant's superior ability to maintain optimal arousal. CONCLUSIONS: These results suggest that breast milk DHA is beneficial to the neonate's neurobehavioral functioning and call for investigative attention to DHA's role in potentiating optimized intellectual functioning at later stages of development. The findings may also be interpreted as supporting formula supplementation with DHA.     

The effect of prenatal cocaine exposure on neurobehavioral outcome: a meta-analysis

A meta-analysis was performed of the research published from 1985 to 1998 examining the effect of in utero exposure to cocaine on infant neuobehavioral outcome. The initial search for articles to include in the meta-analysis identified 18 studies with potentially meta-analytic variables. Of the studies originally retrieved, 13 failed to meet all of the inclusion criteria and were excluded from the meta-analysis. A total of 14 meta-analyses were performed comparing cocaine-exposed infants to nonexposed infants on NBAS cluster scales at birth and at 3–4 weeks of age. While the meta-analytic combination of studies produced a large enough sample size to drive statistical significance in a small majority of the tests of difference between the cocaine-exposed and nonexposed infants both at birth and soon after, the magnitude of all effects was small. The largest reliable differences appeared for the motor performance and abnormal reflexes clusters. Both also demonstrated a slight trend for increasing standard differences from birth to measures obtained at 3–4 weeks. The orientation and autonomic regulation clusters produced small, significant effects at both time periods, but the trend was for reduced effect sizes over time. All other effects appear truly negligible.     

Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic,autosomal recessive disorder: Mystery solved after two decades

Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal growth retardation, senile facial appearance, small hands and feet, optic atrophy with loss of visual acuity and color vision, and normal intelligence (OMIM #614800). The presence of Pelger‐Hüet anomaly in this disorder led to its name as an acronym for S hort stature, O ptic nerve atrophy, and P elger‐H üet anomaly. Recent publications have further contributed to the characterization of this syndrome through additional phenotype–genotype correlations. We review the clinical features described in these publications and report on a 27‐year‐old woman with dwarfism with osteolysis and multiple skeletal problems, minor anomalies, immunodeficiency, diabetes mellitus, and multiple secondary medical problems. Her condition was considered an unknown autosomal recessive disorder for many years until exome sequencing provided the diagnosis by revealing a founder disease‐causing variant that was compound heterozygous with a novel pathogenic variant in NBAS. Based on the major clinical features of this individual and others reported earlier, a revision of the acronym is warranted to facilitate clinical recognition.     

Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review

Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, inherited metabolic diseases, and infections. However, despite thorough investigations, a cause cannot be determined in approximately 50% of cases. Here, we report three cases with recurrent ALF caused by NBAS and SCYL1 pathogenic variants. These patients did not present with any other phenotypic sign usually associated with NBAS and SCYL1 pathogenic variants. Two of them underwent liver transplantation and are healthy without recurrence of ALF. We propose NBAS and SCYL1 genetic analysis in children with unexplained fever-triggered recurrent ALF even without a typical phenotype.