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Roberta Pineda - One of the best experts on this subject based on the ideXlab platform.
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Neonatal Feeding performance is related to Feeding outcomes in childhood
Early Human Development, 2020Co-Authors: Jenny Kwon, Polly Kellner, Michael Wallendorf, Joan R Smith, Roberta PinedaAbstract:Abstract Aim Define relationships of early Feeding performance with Feeding outcomes in childhood, while assessing the predictive validity of the Neonatal Eating Outcome Assessment. Study design Ninety-one infants (44 preterm infants born ≤32 weeks at term-equivalent age and 47 full-term infants within 4 days of life) had Feeding evaluated using the Neonatal Eating Outcome Assessment and the Neonatal Oral Motor Assessment Scale (NOMAS). At 4 years of age, 39 of these infants (22 preterm infants and 17 full-term infants; 43% follow-up rate) had parent-report measures of Feeding conducted using the Behavioral Pediatrics Feeding Assessment Scale (BPFAS) and Pediatric Eating Assessment Tool (PediEAT). Results Lower Neonatal Eating Outcome Assessment scores were related to higher PediEAT scores (p = 0.01; r = −0.44), but were not related to BPFAS scores (p = 0.17; r = −0.23). Relationships were not detected between the NOMAS and BPFAS (p = 0.35; r = 0.17), and relationships between the NOMAS and PediEAT failed to reach significance (p = 0.06; r = 0.34). There was a relationship between the BPFAS and PediEAT scores at 4 years (p Discussion Neonatal Feeding performance is an important predictor of Feeding outcomes at 4 years of age. The Neonatal Eating Outcome Assessment has predictive validity, and the Pediatric Eating Assessment Tool has concurrent validity with relationships to another childhood Feeding tool.
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psychometrics of the Neonatal oral motor assessment scale
Developmental Medicine & Child Neurology, 2013Co-Authors: Cori Zarem, Michael Wallendorf, Hiroyuki Kidokoro, Jeffrey J Neil, Terrie E Inder, Roberta PinedaAbstract:Full attainment of oral Feeding is one of the most complex tasks of infancy1,2 and one of three criteria required for discharge from the Neonatal intensive care unit (NICU).3 Infants in the NICU are often delayed in oral Feeding and are at increased risk of oral-motor dysfunction, non-organic failure to thrive, and dysphagia.4–6 Additionally, poor Feeding in neonates has been associated with subsequent developmental delay and Feeding difficulties in childhood.4 Children with Feeding complications have higher incidences of brain injury, and often experience long-term motor, behavioral, and cognitive dysfunction.5–9 Early identification of these problems is important to enable interventions to optimize function,10 and relies on the availability of valid and reliable assessment tools. The Neonatal Oral Motor Assessment Scale (NOMAS), developed by Marjorie Meyer Palmer in 1985, is a widely used Neonatal Feeding evaluation.2,7,11–13 The tool is not commercially available. Raters are certified through a 3-day course, conducted most often by Palmer. As a requirement set by Palmer, participants are certified at the end of the course if they correctly classify five videotaped Feedings as ‘normal’, ‘disorganized’, or ‘dysfunctional’. The NOMAS is the only available Neonatal Feeding evaluation that can be used with term or preterm infants and with infants who are breast or bottle-fed.1 The NOMAS is a 28-item observational checklist of tongue and jaw movement. Following observation of non-nutritive sucking, the first two minutes of oral Feeding are evaluated. Feeding is classified as normal, disorganized, or dysfunctional.11 Using the NOMAS, normal defines an infant demonstrating coordination of suck–swallow–breathe responses and Feeding efficiency.13 Infants who demonstrate difficulty coordinating suck–swallow–breathe are classified as disorganized. Any abnormal movement interrupting the Feeding process leads to a classification of dysfunctional.11,12 Dysfunctional characteristics include excessively wide jaw excursions interrupting the seal on the nipple, lateral jaw deviation, a flaccid/retracted tongue, or total absence of movement.13 Though the NOMAS was developed over 20 years ago, there is limited research investigating its psychometric properties.1 One study reported that at age 2 years, 100% of infants classified as normal on the NOMAS will not have developmental delay, and 100% of infants classified as dysfunctional will have developmental delay.14 The ability of the NOMAS to predict developmental delay in infants categorized as normal or dysfunctional is cited during the certification course. However, this study assessed 17 infants and was retrospective, with many confounding factors, weakening its results and implications. Another study found the NOMAS to have modest internal consistency within the normal and disorganized categories (Cronbach α>0.70) and acceptable convergent validity for infants 32 to 35 weeks' postmenstrual age (Spearman’s r=0.51–0.69).2 The study did not include calculations for the dysfunctional category, and called for further investigation of the NOMAS. Another study found the interrater reliability to be ‘moderate’ to ‘substantial,’ with kappa (κ) =0.40 to 0.65 and intrarater reliability to be variable at κ=0.33 to 0.95. This was considered unacceptable for a diagnostic tool.12 The NOMAS has been associated with 12-month outcome; infants categorized as normal performed better on developmental tests than infants persistently categorized as disorganized.9 However, this study excluded infants with cerebral injury, which is common in preterm infants and other high-risk populations. The ability of assessments like the NOMAS to identify those in need of early intervention could enhance the short and long-term care of preterm infants, and help minimize the effects of Feeding related morbidities.10 It is therefore necessary to further investigate the psychometric properties of the NOMAS to provide clinicians with accurate information, and to work toward developing standardized and reliable tools to assess Feeding in high-risk populations. The aim of this study was to evaluate the concurrent and predictive validity of the NOMAS, as well as its interrater and intrarater reliability.
Oliver Bartsch - One of the best experts on this subject based on the ideXlab platform.
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epimutation at human chromosome 14q32 2 in a boy with a upd 14 mat like clinical phenotype
Clinical Genetics, 2009Co-Authors: Ulrich Zechner, N Kohlschmidt, G Rittner, Natalja Damatova, Vera Beyer, Thomas Haaf, Oliver BartschAbstract:Recently, three reports described deletions and epimutations affecting the imprinted region at chromosome 14q32.2 in individuals with a phenotype typical for maternal uniparental disomy of chromosome 14 [upd(14)mat]. In this study, we describe another patient with upd(14)mat-like phenotype including low birth weight, Neonatal Feeding problems, muscular hypotonia, motor and developmental delay, small hands and feet, and truncal obesity. Conventional cytogenetic analyses, fluorescence in situ hybridization subtelomere screening, multiplex ligation-dependent probe amplification analysis of common microdeletion and microduplication syndromes, and methylation analysis of SNRPN all gave normal results. Methylation analysis at 14q32.2 revealed a gross hypomethylation of the differentially methylated regions (intergenic DMR and MEG3-DMR). Further molecular studies excluded full or segmental upd(14)mat as well as a microdeletion within this region. Evidently, the upd(14)mat-like clinical phenotype is caused by an epimutation at 14q32.2. The clinical and molecular features of this novel case are discussed with respect to the recently published cases.
Tjitske Kleefstra - One of the best experts on this subject based on the ideXlab platform.
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a recurrent de novo missense pathogenic variant in smarcb1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
Genetics in Medicine, 2019Co-Authors: Illja J Diets, Trine Prescott, Neena L Champaigne, Grazia M S Mancini, Bard Krossnes, Radek Fric, Kristina Kocsis, Marjolijn C J Jongmans, Tjitske KleefstraAbstract:SMARCB1 encodes a subunit of the SWI/SNF complex involved in chromatin remodeling. Pathogenic variants (PV) in this gene can give rise to three conditions. Heterozygous loss-of-function germline PV cause rhabdoid tumor predisposition syndrome and schwannomatosis. Missense PV and small in-frame deletions in exons 8 and 9 result in Coffin–Siris syndrome, which is characterized by intellectual disability (ID), coarse facial features, and fifth digit anomalies. By a gene matching approach, individuals with a similar SMARCB1 PV were identified. Informed consent was obtained and patient data were collected to further establish genotype–phenotype relationship. A recurrent de novo missense PV (c.110G>A;p.Arg37His) in exon 2 of SMARCB1, encoding the DNA-binding domain, was identified in four individuals from different genetic centers. They shared a distinct phenotype consisting of profound ID and hydrocephalus due to choroid plexus hyperplasia. Other shared features include severe Neonatal Feeding difficulties; congenital heart, kidney, and eye anomalies; obstructive sleep apnea; and anemia. The p.Arg37His PV in the DNA-binding domain of SMARCB1 causes a distinctive syndrome, likely through a gain-of-function or dominant-negative effect, which is characterized by severe ID and hydrocephalus resulting from choroid plexus hyperplasia. This report broadens the phenotypic spectrum associated with PV in SMARCB1.
Marjolijn C J Jongmans - One of the best experts on this subject based on the ideXlab platform.
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a recurrent de novo missense pathogenic variant in smarcb1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
Genetics in Medicine, 2019Co-Authors: Illja J Diets, Trine Prescott, Neena L Champaigne, Grazia M S Mancini, Bard Krossnes, Radek Fric, Kristina Kocsis, Marjolijn C J Jongmans, Tjitske KleefstraAbstract:SMARCB1 encodes a subunit of the SWI/SNF complex involved in chromatin remodeling. Pathogenic variants (PV) in this gene can give rise to three conditions. Heterozygous loss-of-function germline PV cause rhabdoid tumor predisposition syndrome and schwannomatosis. Missense PV and small in-frame deletions in exons 8 and 9 result in Coffin–Siris syndrome, which is characterized by intellectual disability (ID), coarse facial features, and fifth digit anomalies. By a gene matching approach, individuals with a similar SMARCB1 PV were identified. Informed consent was obtained and patient data were collected to further establish genotype–phenotype relationship. A recurrent de novo missense PV (c.110G>A;p.Arg37His) in exon 2 of SMARCB1, encoding the DNA-binding domain, was identified in four individuals from different genetic centers. They shared a distinct phenotype consisting of profound ID and hydrocephalus due to choroid plexus hyperplasia. Other shared features include severe Neonatal Feeding difficulties; congenital heart, kidney, and eye anomalies; obstructive sleep apnea; and anemia. The p.Arg37His PV in the DNA-binding domain of SMARCB1 causes a distinctive syndrome, likely through a gain-of-function or dominant-negative effect, which is characterized by severe ID and hydrocephalus resulting from choroid plexus hyperplasia. This report broadens the phenotypic spectrum associated with PV in SMARCB1.
Gabriele Gillessenkaesbach - One of the best experts on this subject based on the ideXlab platform.
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is there a higher incidence of maternal uniparental disomy 14 upd 14 mat detection of 10 new patients by methylation specific pcr
American Journal of Medical Genetics Part A, 2006Co-Authors: Diana Mitter, Karin Buiting, Ferdinand Von Eggeling, Alma Kuechler, Thomas Liehr, Ulrike A Mauholzmann, Evachristina Prott, Dagmar Wieczorek, Gabriele GillessenkaesbachAbstract:Maternal uniparental disomy for chromosome 14 [upd(14)mat] is associated with a characteristic phenotype including pre- and postnatal growth retardation, muscular hypotonia, Feeding problems, motor delay, small hands and feet, precocious puberty and truncal obesity. Patients with upd(14)mat show features overlapping with Prader–Willi syndrome (PWS) and are probably underdiagnosed. Maternal upd(14) is frequently described in carriers of a Robertsonian translocation involving chromosome 14, but is also found in patients with a normal karyotype. Based on the above mentioned criteria we have identified six patients with upd(14)mat including two patients with a normal karyotype, one patient with a de novo Robertsonian translocation (14;21), one patient with a familial Robertsonian translocation (13;14) and two patients with a marker chromosome. In addition, we analyzed a cohort of 33 patients with low birth weight, Feeding difficulties and consecutive obesity in whom PWS had been excluded by methylation analysis of SNRPN. In four of these patients (12%) we detected upd(14)mat. For rapid testing of upd(14)mat we analyzed the methylation status of the imprinted MEG3 locus. In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, Neonatal Feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal obesity as well as in patients with a PWS like phenotype presenting with low birth weight, Feeding difficulties and obesity. © 2006 Wiley-Liss, Inc.
