A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report.

INTRODUCTION: Microdeletion syndromes occur from deletion of 5Mb of a chromosome in approximately 5% of patients with unexplained intellectual disability. Interstitial microdeletions at bands 1p33 and 1p32.2 of the short arm of chromosome 1 are rare and have not been previously reported in relation to disease. PATIENT CONCERNS: We present a case of a 39-month boy with Pierre Robin sequence, development delay/intellectual disability, growth retardation, short stature, leukoencephalopathy, craniofacial dysplasia, and speech delay. The child was referred to the Child health care department in October 2014 for his delayed language development and aggravated aggression. DIAGNOSIS: Molecular diagnostic testing with G-band karyotyping was normal but clinical microarray analysis detected a 10 Mb microdeletion at 1p33p32.2. INTERVENTIONS: The patient received rehabilitation. OUTCOMES: Three candidate genes were pinpointed to the deleted area, including ORC1, SCP2, and DAB1. Phenotype-genotype analysis suggested that these three genes are likely to be responsible for the main phenotypes observed in the patient, such as microcephaly, growth retardation, short stature, leukoencephalopathy, and development delay/intellectual disability. CONCLUSIONS: The spectrum of phenotypes this case presented with are likely to be caused by 1p33p32.2 deletion which could represent a new microdeletion syndrome.

In Situ and Home Care Nasopharyngeal Intubation Improves Respiratory Condition and Prevents Surgical Procedures in Early Infancy of Severe Cases of Robin Sequence.

AIM: To evaluate the clinical outcome of infants with Robin Sequence (RS) and severe respiratory obstruction managed with nasopharyngeal intubation (NPI). METHODS: This prospective study was conducted with 107 infants with RS admitted to the Hospital for Craniofacial Anomalies of the University of São Paulo (HRAC-USP), from July 2003 to June 2010, diagnosed with severe RS and treated with NPI. The infants were followed up for the first year of life. Clinical findings, morbidity, and mortality were recorded. RESULTS: Of the 223 infants with RS admitted to the hospital in the period studied, 149 were diagnosed with severe respiratory distress and 107 (71.81%) matched all the inclusion criteria. Of those, 78 (73%) presented Isolated Robin Sequence and 29 (27%) presented other syndromes or anomalies associated with RS. NPI treatment lasted an average of 57 days and the mean hospitalization time was 18 days. Although all infants presented feeding difficulties, 85% were fed orally and only 15% underwent gastrostomy. Morbidity was 14% and no deaths occurred. CONCLUSIONS: The children treated with the RS treatment protocol adopted at the HRAC-USP had improved respiratory and feeding difficulties, required a shorter hospitalization time, and presented low morbidity and mortality during the first year of life. The general outcome prevented surgical procedures in early infancy.

Assessment of speech nasality in children with Robin Sequence.

PURPOSE: To report the outcomes of primary palatoplasty in Robin Sequence (RS); to verify the relationship between modalities of assessment of nasality; to compare nasality between techniques at palatoplasty. METHODS: This study involved the identification of hypernasality in four modalities: live assessment with 4-point scale; live assessment with cul-de-sac test; multiple listeners' ratings of recorded phrase; nasometric assessment. Live ratings of speech nasality and nasalance scores were retrieved from charts, while a recorded phrase was rated by listeners for occurrence of hypernasality. Agreement between the modalities was established as well as association between nasality, nasal turbulence and age at surgery and at assessment. Fisher's exact test was used to compare findings between surgical techniques. RESULTS: Agreement between nasalance, live assessment with 4-point scale, live assessment with cul-de-sac, and multiple listeners' ratings of recorded samples ranged between reasonable (0.32) and perfect (1.00). Percentage occurrence of hypernasality varied largely between assessment modalities. Mean occurrence of hypernasality was lower for the group submitted to Furlow technique (26%) than the group that received von Langenbeck technique (53%). Only findings obtained live were statistically significant (scale: p=0.012; cul-de-sac: p<0.001). Listeners identified nasal turbulence for 22 (32%) samples out of the 69 recordings, and an association was found between hypernasality and nasal turbulence. CONCLUSION: Lower occurrence of hypernasality was identified for patients with RS in Furlow group. Identification of hypernasality varied largely among the four assessment modalities.

Assessment of speech nasality in children with Robin Sequence / Avaliação da nasalidade de fala em crianças com Sequência de Robin

PURPOSE: To report the outcomes of primary palatoplasty in Robin Sequence (RS); to verify the relationship between modalities of assessment of nasality; to compare nasality between techniques at palatoplasty. METHODS: This study involved the identification of hypernasality in four modalities: live assessment with 4-point scale; live assessment with cul-de-sac test; multiple listeners' ratings of recorded phrase; nasometric assessment. Live ratings of speech nasality and nasalance scores were retrieved from charts, while a recorded phrase was rated by listeners for occurrence of hypernasality. Agreement between the modalities was established as well as association between nasality, nasal turbulence and age at surgery and at assessment. Fisher's exact test was used to compare findings between surgical techniques. RESULTS: Agreement between nasalance, live assessment with 4-point scale, live assessment with cul-de-sac, and multiple listeners' ratings of recorded samples ranged between reasonable (0.32) and perfect (1.00). Percentage occurrence of hypernasality varied largely between assessment modalities. Mean occurrence of hypernasality was lower for the group submitted to Furlow technique (26%) than the group that received von Langenbeck technique (53%). Only findings obtained live were statistically significant (scale: p=0.012; cul-de-sac: p<0.001). Listeners identified nasal turbulence for 22 (32%) samples out of the 69 recordings, and an association was found between hypernasality and nasal turbulence. CONCLUSION: Lower occurrence of hypernasality was identified for patients with RS in Furlow group. Identification of hypernasality varied largely among the four assessment modalities. .

OBJETIVO: Reportar os resultados da palatoplastia primária na Sequência de Robin (SR); verificar a relação entre modalidades de avaliação da nasalidade; comparar nasalidade entre técnicas na palatoplastia. MÉTODOS: Este estudo envolveu a identificação da hipernasalidade em quatro modalidades: avaliação ao vivo com escala de quatro pontos; avaliação ao vivo com teste cul-de-sac; julgamento de gravações por juízes e avaliação nasométrica. Julgamentos ao vivo da nasalidade e escores de nasalância foram obtidos em prontuários, enquanto uma frase gravada foi julgada por juízes para ocorrência de nasalidade. Concordância entre as quatro modalidades foi estabelecida assim como associação entre nasalidade, turbulência nasal e idades na cirurgia e na avaliação. Teste exato de Fisher foi usado para comparar achados entre as técnicas cirúrgicas. RESULTADOS: A concordância entre nasalância, avaliação ao vivo com escala de quatro pontos e com teste cul-de-sac e julgamentos de gravações por juízes variou entre razoável (0,32) e perfeita (1,00). Porcentagem de ocorrência de hipernasalidade variou muito entre as diferentes modalidades. Ocorrência média de hipernsalidade no grupo operado com técnica de Furlow foi menor (26%) do que no grupo que recebeu a técnica de von Langenbeck (53%). Somente os resultados avaliados ao vivo foram estatisticamente significantes (escala: p=0,012; cul-de-sac: p<0,001). Juízes ouviram turbulência nasal em 22 (32%) das 69 gravações e uma associação entre hipernasalidade e turbulência nasal foi encontrada. CONCLUSÃO: Ocorrência de hipernasalidade foi menor para os pacientes com SR que receberam a técnica de Furlow. Identificação da hipernasalidade variou grandemente entre as quatro modalidades de avaliação. .

Feeding plate for a neonate with Pierre Robin sequence.

Pierre Robin Sequence is a congenital condition involving a combination of micrognathia and glossoptosis with or without a cleft palate. Feeding problems are often associated with cleft anamoly which make it difficult for the infant to maintain adequate nutrition. Here we present a case of 58-day-old neonate with Pierre Robin sequence, in whom we contructed a palatal obturtor for feeding.

[Pierre Robin syndrome treated by physiotherapy electromyography assisted]. / Sindrome di Pierre Robin trattata con fisioterapia elettromiograficamente assistita.

Pierre Robin syndrome is characterized by the triad: micrognathia, cleft palate and glossoptosis. This syndrome, which often undermines several organs and systems, is treated with a multidisciplinary approach that involves several specialists. The AA. present a case of Pierre Robin syndrome in neuromuscular rehabilitation by physiotherapy EMG-assisted.

Speech prognosis and need of pharyngeal flap for non syndromic vs syndromic Pierre Robin Sequence.

BACKGROUND: The aim of this retrospective study was to evaluate speech outcome and need of a pharyngeal flap in children born with nonsyndromic Pierre Robin Sequence (nsPRS) vs syndromic Pierre Robin Sequence (sPRS). METHODS: Pierre Robin Sequence was diagnosed when the triad microretrognathia, glossoptosis, and cleft palate were present. Children were classified at birth in 3 categories depending on respiratory and feeding problems. The Borel-Maisonny classification was used to score the velopharyngeal insufficiency. RESULTS: The study was based on 38 children followed from 1985 to 2006. For the 25 nsPRS, 9 (36%) pharyngeal flaps were performed with improvements of the phonatory score in the 3 categories. For the 13 sPRS, 3 (23%) pharyngeal flaps were performed with an improvement of the phonatory scores in the 3 children. There was no statistical difference between the nsPRS and sPRS groups (P = .3) even if we compared the children in the 3 categories (P = .2). CONCLUSIONS: Children born with nsPRS did not have a better prognosis of speech outcome than children born with sPRS. Respiratory and feeding problems at birth did not seem to be correlated with speech outcome. This is important when informing parents on the prognosis of long-term therapy.

[Conservative orthodontic primary care of four newborns with the Pierre-Robin sequence triad].

Newborns with Pierre-Robin sequence often suffer from serious or even life-threatening obstructions in the respiratory tract resulting from anatomic malformations (micrognathia, glossoptosis and potentially a median cleft palate). Such babies require immediate effective therapeutic measures. Our case descriptions of four babies with the typical triad illustrate the application of a modified upper plate with an individually-adjustable pharyngeal spur. Precise and individually-modifiable adaptation of the plate's pharyngeal parts--depending on the developmental stage--permit the narrow airway to be opened, which then affects the tongue's position and the sagittal position of the mandible.

Feeding-facilitating techniques for the nursing infant with Robin sequence.

OBJECTIVE: To determine the effectiveness of feeding-facilitating techniques in children with Robin sequence. SETTING: Hospital de Reabilitação de Anomalias Craniofaciais, University of São Paulo, Bauru, São Paulo, Brazil. PATIENTS: Twenty-six children less than 2 months of age with Robin sequence, whose only cause of respiratory obstruction was glossoptosis. Thirteen infants were treated by being placed in the prone position (Group 1), and 13 were treated by nasopharyngeal intubation (Group 2). INTERVENTIONS: During hospitalization, the following feeding-facilitating techniques were applied daily to all children: pacifier, massage to relax and anteriorize the tongue, long and soft bottle nipple with original or enlarged hole, global symmetric position, rhythmic movement of the nipple during suction, and insertion of the nipple on the tongue. RESULTS: During the first evaluation, Group 1 patients accepted 36.15 +/- 33.05 mL milk orally within a period of 44.62 +/- 42.94 minutes, whereas Group 2 ingested 20.00 +/- 20.51 mL milk within 30.38 +/- 25.77 minutes. A significant increase (p < .01) in the volume of ingested milk was observed for the two groups at hospital discharge after a mean treatment period of 10.7 days (Group 1: 63.46 +/- 22.58 mL and Group 2: 55.00 +/- 13.07 mL). The mean duration of feeding decreased in the two groups, with a value of 21.54 +/- 7.18 minutes for Group 1 and of 20.28 +/- 8.53 minutes for Group 2. CONCLUSION: The results showed that feeding-facilitating techniques can foster oral feeding in infants with Robin sequence.

A feeding obturator for a preterm baby with Pierre Robin sequence.

The article describes a clinical and laboratory technique for the fabrication of a feeding obturator for a baby with Pierre Robin sequence. Emphasis is placed on the direct fabrication of a preliminary custom tray, preventing thermal trauma to the tissues, and overcoming the danger of airway obstruction or foreign body aspiration. The functional problems associated with a cleft palate and various methods to overcome them are also discussed.

Analysis of response covariationamong multiple topographies of food refusal.

This study examined the effects of sequentially introducing treatment across multiple topographies of food refusal. Treatment with nonremoval of the spoon produced an increase in food acceptance and a decrease in disruption, but expulsion of food increased. When expulsion was treated, packing of food increased. Finally, when packing was treated, all refusal behaviors remained low, and acceptance continued to occur at high and stable levels.