Global and communicative development skills in preschool children with cleft lip and palate

Importance::Cleft lip and palate (CLP) is globally among the most common childhood malformations. This disorder impacts childhood development, including speech ...     

Prevalence of cleft lip and/or palate in children from Lodz between years 1981–2010

Congenital malformations constitute a serious problem of both medical and social nature. Cleft lip and/or palate represent the most common congenital anomaly of the face that is why it is essential to know the real frequency of the described phenomenon. The aim of this paper is to determine the frequency of cleft lip and/or palate and the types of malformations that occurred in Lodz city between the years 1981–2010. Our clinic has been carrying on the studies concerning the incidence of cleft lip and/or palate since 1981. The Polish Registry of Congenital Malformations has been operating in Poland since 1 April 1997. The team has managed to obtain data, from the Registry, concerning the total number of all live born infants and the number of children with cleft lip and/or palate, who were born in Lodz, between 1998 and 2010. In years 1981–2010, 319 children, in 210 952 live born infants, were born with cleft lip and/or palate in Lodz. The isolated cleft palate was observed more frequently in girls and the unilateral cleft of lip and palate in boys. In all three decades palate clefts are more common whereas bilateral lip, alveolus and palate clefts are more infrequent. A small tendency to decrease in actual cleft lip and/or palate frequency among children, in the period of 30 years, is observed in Lodz. Over the years it has still been observed that the isolated cleft palate is the most common type of defect.     

A multiple malformations syndrome with cleft lip and palate and ankyloblepharon filiforme adnatum

A case of bilateral ankyloblepharon filiforma adnatum with cleft lip and palate, bilateral popliteal pterygia, bilateral complete syndactyly of 2nd and 3rd toes associated with hypoplastic nails, accessory nipple and partially descrended testes is presented. It is a rare case with unusual associations which are all potentially correctable surgically. Ankyloblepharon and cryptophthalmos must be distinguished from each other as syndromic diagnosis is different as also the prognosis for normal vision.     

非综合征型唇腭裂易感基因位点研究进展

非综合征型唇腭裂是一种常见的出生缺陷,病因复杂,目前普遍认为是遗传因素和环境因素共同作用的结果.先天性唇腭裂易感基因是自全基因组测序以来的研究热点,筛选出的众多候选基因正不断被基因位点多态性检测、病例对照研究、Meta分析等方法验证,但结果迥异.该文就近年来研究较多的非综合征型唇腭裂易感基因以及环境因素与唇腭裂相互关系方面的研究进展展开综述.     

Growth in children with Pierre Robin sequence and isolated cleft palate

Postnatal height and weight growth were assessed in 50 children (20 boys) with Pierre Robin sequence and in 58 children (27 boys) with isolated cleft palate, born in 1967–86. The height and weight measurements from birth to 12 years were collected retrospectively from child health centers and schools. The current Finnish relative weight and SD scores for height were used for growth assessment. The birth size of children with Pierre Robin sequence did not differ from those with isolated cleft palate or from healthy children, on the basis of Finnish norms. During the first year after birth, children with Pierre Robin sequence were shorter and lighter than those with isolated cleft palate but later caught up with them and the Finnish norms. Children with Pierre Robin sequence born prematurely or with associated anomalies showed more deficient growth.     

Ectrodactyly,ectodermal dysplasia,cleft lip and palate (EEC)—a rare syndrome

A case of ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC) syndrome featuring bilateral, cleft lip and palate, ectrodactyly, ectodermal dysplasia, occular and renal abnormalities and spina bifida of 5th lumbar vertebra is presented. The patient also had certain dermatoglyphic abnormalities, however, the chromosomal complement was normal.     

Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate

Patients with cleft lip and palate (CLP) encounter various problems, including disorders related to feeding, esthetics, and pronunciation. We compared two impression methods, conventional impression making and intraoral scanning, to study unilateral cleft lip and palate (UCLP). Patients with UCLP (n = 7) were selected, and palatal impressions were taken by two steps: (1) impressions were obtained using an addition silicone rubber impression material, and a plaster model was prepared and (2) optical impressions were obtained using a desktop three-dimensional (3D) scanner and stereolithography (STL). Data were generated by two impression system combinations through STL. The results were analyzed using the Kruskal–Wallis or Mann–Whitney U test. There were no significant differences in the dimensions of the models between both groups. The measured depth of the alveolar cleft defects was deeper in the plaster model group (STL) than in the intraoral scanner group (STL). Digital models may prevent the risk of aspiration and respiratory disorders by using impression materials for preoperative jaw treatment of newborns and infants. We compared the results of both impression methods in the same patient and found that a shift to the 3D printer model is a safe alternative for preoperative jaw correction, as evidenced from the amount of tissue displaced due to the pressure applied during impression taking. In the future, we would like to conduct clinical research with a larger sample size of CLP patients to further corroborate these findings.     

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目的探讨唇腭裂患儿中先天性心脏病(简称先心病)的发生率及其特点。方法广州市儿童医院口腔科2004-01—2005-05共收治567例拟行唇腭裂修复术的患儿,将患儿分成单纯唇裂组、单纯腭裂组及唇裂合并腭裂组3组,对3组患儿均行彩色多普勒超声心动图检查,对检查结果进行统计学分析。结果567例唇腭裂患儿中共检出先天性心脏病37例,总发生率为6·53%,主要的先心病为:房间隔缺损(ASD)、动脉导管未闭(PDA)、室间隔缺损(VSD);其中单纯唇裂组和单纯腭裂组患儿先心病发生率分别为5·08%、10·56%,唇裂合并腭裂组患儿先心病发生率为5·21%。运用Pearson卡方检验进行统计学分析,3组患儿的先心病发生率差异无显著性。结论先心病在唇腭裂患儿中发生率较高,彩色多普勒超声心动图检查能清楚准确地诊断各类型的先天性心脏病,可用于唇腭裂修复术前的常规检查。     

Molecular contribution to cleft palate production in cleft lip mice

Cleft palate following cleft lip may include a developmental disorder during palatogenesis. CL/Fr mice fetuses, which develop cleft lip and palate spontaneously, have less capability for in vivo cell proliferation in palatal mesenchyme compared with CL/Fr normal fetuses. In order to know the changes of signaling molecules contributing to cleft palate morphogenesis following cleft lip, the mRNA expression profiles were compared in palatal shelves oriented vertically (before elevation) in CL/Fr fetuses with or without cleft lip. The changes in mRNA profile of cleft palate morphogenesis were presented in a microarray analysis, and genes were restricted to lists contributing to cleft palate development in CL/Fr fetuses with cleft lip. Four candidate genes (Ywhab, Nek2, Tacc1 and Frk) were linked in a gene network that associates with cell proliferation (cell cycle, MAPK, Wnt and Tgf beta pathways). Quantitative real‐time RT‐PCR highlighted the candidate genes that significantly changed in CL/Fr fetuses with cleft lip (Ywhab, Nek2 and Tacc1). The results of these molecular contributions will provide useful information for a better understanding of palatogenesis in cleft palate following cleft lip. Our data indicated the genetic contribution to cleft palate morphogenesis following cleft lip.     

The effect of cleft lip and palate, and the timing of lip repair on mother-infant interactions and infant development

Background:  Children with cleft lip and palate are at risk for psychological problems. Difficulties in mother–child interactions may be relevant, and could be affected by the timing of lip repair.
Method:  We assessed cognitive development, behaviour problems, and attachment in 94 infants with cleft lip (with and without cleft palate) and 96 non-affected control infants at 18 months; mother–infant interactions were assessed at two, six and 12 months. Index infants received either 'early', neonatal, lip repair, or 'late' repair (3–4 months).
Results:  Index infants did not differ from controls on measures of behaviour problems or attachment, regardless of timing of lip repair; however, infants having late lip repair performed worse on the Bayley Scales of Mental Development; the cognitive development of early repair infants was not impaired. Difficulties in early mother–infant interactions mediated the effects of late lip repair on infant cognitive outcome.
Conclusions:  Early interaction difficulties between mothers and infants having late repair of cleft lip are associated with poor cognitive functioning at 18 months. Interventions to facilitate mother–infant interactions prior to surgical lip repair should be explored.     

Cleft lip and palate in mice treated with 2,3,7,8-tetrachlorodibenzo-p-dioxin: a morphological in vivo study

It is well-known that TCDD (2,3,7,8, tetrachloridedibenzo-p-dioxin) induces cleft palates (CPs) in pregnant C57BL mice. However, it is unclear if TCDD is a possible teratogen for cleft lip. We examined maxillofacial malformations including cleft lip in three animal strains: A/J mice, C57BL/6J mice and ICR mice. The A/J mouse develops cleft lip and palate spontaneously at a 5-10% rate. TCDD was administered in olive oil on gestation day (GD) 12.5 with gastric tubes at 10 microg/kg, 20 microg/kg, or 40 microg/kg to examine the dose-response, and on a single day from GD 8.5-14.5 to examine the timing effects of TCDD administration on lip and palate formation. Furthermore, the palatal shelf movements during GD 8.5-14.5 were observed with a stereoscopic microscope. All embryos had cleft palates when the TCDD was administered just before palatogenesis (GD11.5-GD12.5). With respect to the TCDD effects, there were large differences among the strains. In the A/J mice, the difference between a lethal dose and a dose that could induce a cleft palate was close. Cleft lips were not induced, even when the TCDD was given just before labiogenesis. Morphologically, both palatal shelves contacted perfectly along their lengths, but separated and formed cleft palates. In conclusion, TCDD is a strong inducer of cleft palates, and interferes with the fusion phase of the secondary palate, but has no effect on the lip.     

Airway management in children with cleft palate and/or micrognathia

Cleft lip and/or palate is the commonest congenital craniofacial abnormality affecting approximately 1 in 700 newborns each year. It comprises of a heterogenous group of disorders affecting facial growth and cosmesis, that are associated with increased risk of airway obstruction, sleep disordered breathing (SDB), glue ear and chronic ear disease, feeding difficulties, and failure to thrive (FTT). Cleft palate (CP) can be accompanied by an abnormally undersized jaw, known as micrognathia; although micrognathia can also be found in isolation. The craniofacial abnormalities found in these children can lead to a reduction in airway size due to the tongue falling backwards. The risk of airway obstruction ranges from intermittent airway collapse during sleep (obstructive sleep apnoea, OSA) to potentially life-threatening airway compromise necessitating intubation or a tracheostomy. This paper sets out to describe the pathophysiology of airway compromise in these children, recognising clinical symptoms and appropriate referral strategy, as well as a broad range of management options.     

The effect of cleft lip on cognitive development in school-aged children: a paradigm for examining sensitive period effects

Background: Our previous investigation showed that infants with cleft lip who had undergone late (three‐month) surgical repair (but not those with early, neonatal, repair) had significantly poorer cognitive development at 18 months than a group of unaffected control children. These differences were mediated by the quality of early mother–infant interactions. The present study examined whether this pattern persisted into later childhood. Method: At 7 years, 93 index (44 early, and 49 late repair) and 77 control children were followed up and their cognitive development assessed (IQ, language and school achievements). Results: Index children (particularly those with late lip repair) scored significantly lower than controls on tests of cognitive development. Group differences in Verbal IQ were mediated by 2 months’ maternal sensitivity; this was associated with 7‐year Verbal IQ, even after controlling for later mother–child interactions. Conclusions: Social interactions in the first few months may be of especial importance for child cognitive development. Interventions for infants with cleft lip should be directed at fostering the best possible parental care in infancy.     

Structure and function of the superior temporal plane in adult males with cleft lip and palate: pathologic enlargement with no relationship to childhood hearing deficits

BACKGROUND: In a previous study from our lab, adult males with non-syndromic cleft lip and/or palate (NSCLP) were shown to have significantly lower temporal lobe gray matter volume than matched controls. The current study was designed to begin a regional analysis of specific subregions of the temporal lobe. The superior temporal plane (STP) is a brain region involved in the governance of auditory processing and aspects of language. The cognitive deficit of subjects with NSCLP is characterized by specific deficits in language; therefore this region of the temporal lobe is particularly important to investigate in this population. The STP has been found to be structurally abnormal in subjects with dyslexia, another developmental disorder involving language deficit. The hypothesis for the current study was that the STP in subjects with NSCLP would be structurally abnormal and that the abnormality would be related to cognitive deficit, but not to developmental hearing deficit. METHODS: Manual tracing of the STP in NSCLP males and matched controls was performed on magnetic resonance imaging (MRI) scans. Ratios of STP to total temporal lobe gray matter volume were calculated and compared across groups. In addition, the morphology of the STP was correlated to cognitive function as well as measures of hearing deficit during infancy and childhood. RESULTS: Despite overall deficit in temporal lobe gray matter, the STP is disproportionately large in subjects with NSCLP compared to controls. Further, gray matter volume of the STP was inversely correlated with IQ and language test scores in CLP subjects. Hearing loss throughout childhood and adulthood was not significantly correlated with brain morphology. CONCLUSIONS: The structure of the superior temporal plane in adult males with NSCLP was disproportionately large. This abnormally increased volume was directly related to IQ, with greater STP volume being associated with lower cognitive functioning, thus characterizing the finding as 'pathologic enlargement'. Moreover, there was no relationship between the structure of the STP and measures of childhood hearing impairment, supporting the notion that the language deficits of this population are more likely due to abnormal brain development than to the effects of hearing deficit during childhood.     

Arthrogryposis multiplex congenita‐like syndrome associated with median cleft lip and palates: First prenatally detected case

An early second‐trimester prenatal ultrasound diagnosis of an arthrogryposis multiplex congenita‐like syndrome associated with median clefts is reported. A molecular biological work‐up was performed to search for a potentially overlapping syndrome and dysostosis. Autopsy and postmortem radiogram were performed to confirm the ultrasound diagnosis. Prenatal diagnosis enabled early detection of multiple fetal malformations, thus allowing early termination of pregnancy. Moreover, three‐dimensional ultrasound with volume rendering in the maximum surface mode demonstrated its value in diagnosing oro‐facial clefts, even at an early stage of fetal development.     

The effect of cleft lip on socio-emotional functioning in school-aged children

Background:  Children with cleft lip are known to be at raised risk for socio-emotional difficulties, but the nature of these problems and their causes are incompletely understood; longitudinal studies are required that include comprehensive assessment of child functioning, and consideration of developmental mechanisms.
Method:  Children with cleft lip (with and without cleft palate) ( N  =   93) and controls ( N  =   77), previously studied through infancy, were followed up at 7 years, and their socio-emotional functioning assessed using teacher and maternal reports, observations of social interactions, and child social representations (doll play). Direct and moderating effects of infant attachment and current parenting were investigated, as was the role of child communication difficulties and attractiveness.
Results:  Children with clefts had raised rates of teacher-reported social problems, and anxious and withdrawn-depressed behaviour; direct observations and child representations also revealed difficulties in social relationships. Child communication problems largely accounted for these effects, especially in children with cleft palate as well as cleft lip. Insecure attachment contributed to risk in both index and control groups, and a poorer current parenting environment exacerbated the difficulties of those with clefts.
Conclusions:  Children with clefts are at raised risk for socio-emotional difficulties in the school years; clinical interventions should focus on communication problems and supporting parenting; specific interventions around the transition to school may be required. More generally, the findings reflect the importance of communication skills for children's peer relations.     

Effect of Maternal Treatment with Methylmercury on the Manifestation of Cleft Lip in CL/Fr Mice

Abstract The interaction between methylmercury teratogenesis and manifestation of cleft lip and palate (CL(P)) of genetic origin was experimentally investigated in CL/Fr mice. Pregnant mice were given methylmercuric chloride orally on day 10 of pregnancy at doses of 5, 10, 15 and 20 mg/kg. Animals were put to death on day 18 of pregnancy and the fetuses were examined for malformations, especially facial anomalies. About 23% of fetuses manifested CL(P) in the control group. After maternal treatment with methylmercuric chloride, the incidence of fetuses with CL(P) did not remarkably change in groups of 5 mg/kg (about 30%) and 10 mg/kg (about 24%), but decreased significantly (p<0.01) in groups of 15 mg/kg (about 12%) and 20 mg/kg (about 12%). The average numbers of both early and late fetal deaths in the mercury-treated groups were not significantly different from those in the control group (p > 0.05): This suggested that the decreased incidence of fetuses with CL(P) was not attributable to the preferential mortality of embryos with CL(P). The incidence of isolated cleft palate (CP) was about 1, 5,40 and 80% after maternal treatments of 5,10,15 and 20 mg/kg methylmercuric chloride, respectively, showing the distinct threshold. No significant difference in mercury concentration was observed among normal fetuses, fetuses with CL(P) and with CP within any dose group.