Objective: Adjustment to cleft lip and/or palate (CL/P) is multifaceted, involving several domains of psychological and social functioning. A substantial increase in research in this area has been evident in recent years, along with a preliminary shift in how adjustment to CL/P is conceptualised and measured. An updated and comprehensive review of the literature is needed in light of the rapidly expanding and changing field.Design: A narrative review of 148 quantitative and qualitative studies published between January 2004 and July 2015.Main outcome measures: Findings are presented according to five key domains of adjustment: Developmental Trajectory, Behaviour, Emotional Well-being, Social Experiences and Satisfaction with Appearance and Treatment. Data pertaining to General Psychological Well-being were also examined.Results: The overall impact of CL/P on psychological adjustment appears to be low. Nonetheless, the review demonstrates the complexity of findings both within and across domains, and highl...

/pdf/psychological-adjustment-to-cleft-lip-and-or-palate-a-cqtn3we5i2.pdf

Psychological adjustment to cleft lip and/or palate: A narrative review of the literature.

Rapid Infant Prefrontal Cortex Development and Sensitivity to Early Environmental Experience.

Good quality sleep of sufficient duration is vital for optimal physiological function and our health Sleep deprivation is associated with impaired neurocognitive function and emotional control, and increases the risk for cardiometabolic diseases, obesity and cancer Sleep develops during fetal life with the emergence of a recognisable pattern of sleep states in the preterm fetus associated with the development, maturation and connectivity within neural networks in the brain Despite the physiological importance of sleep, surprisingly little is known about how sleep develops in individuals born preterm Globally, an estimated 15 million babies are born preterm (<37 weeks gestation) each year, and these babies are at significant risk of neural injury and impaired brain development This review discusses how sleep develops during fetal and neonatal life, how preterm birth impacts on sleep development to adulthood, and the factors which may contribute to impaired brain and sleep development, leading to altered neurocognitive, behavioural and motor capabilities in the infant and child Going forward, the challenge is to identify specific risk factors for impaired sleep development in preterm babies to allow for the design of interventions that will improve the quality and quantity of sleep throughout life

https://physoc.onlinelibrary.wiley.com/doi/pdf/10.1113/JP274950

Waking up too early – the consequences of preterm birth on sleep development

Late preterm infants (born at 340/7-366/7 weeks gestation) have been found to have increased morbidity and mortality compared to full term infants. Research has also been done to explore longer-term neurodevelopmental outcomes. This review details neurodevelopmental outcomes from birth to adulthood for late preterm infants. Outcome studies indicate that they are at increased risk of developmental disability, school failure, behavior problems, social and medical disabilities, and death. Many questions still remain regarding late preterm infant neurodevelopmental outcomes and future research should be done into this topic. Given the high prevalence of late preterm births, even small differences in abilities, special education, and length of education may have broader consequences.

Neurodevelopmental outcomes of the late preterm infant.

Chronic inflammation and impaired development of the preterm brain.

Research extending back 50 years has documented a strong occurrence of language disorders (LD) among children with non-syndromic cleft of the lip and/or palate (NSCL/P; Conrad, Richman, Nopoulos, & Dailey, 2009; Goldstein et al., 2007; Hentges et al., 2011; Lamb, Wilson, & Leeper, 1972; Nopoulos, Berg, VanDemark, et al., 2002; Roberts, Mathias, & Wheaton, 2012). This is most often reflected in a high occurrence of Dyslexia in children with NSCL/P (Broder, Richman, & Matheson, 1998; Chapman, 2011; Collett, Stott-Miller, Kapp-Simon, Cunningham, & Speltz, 2010; Richman, Eliason, & Lindgren, 1988; Richman & Ryan, 2003; Richman, Wilgenbusch, & Hall, 2005). For some subgroups this appears to be a developmental lag where reading skills improve in adolescence, though others continue to demonstrate a deficit into adulthood (Richman, et al., 1988).

Early on, it was hypothesized that the high rates of Dyslexia and LD were due either to poor articulation resulting from the abnormal oral cavity or hearing loss secondary to frequent episodes of Otitis Media (Amaral, Martins, & Santos, 2010; Chapman, 2011; Collett, Stott-Miller, et al., 2010). These disruptions to sensory input at critical developmental times were hypothesized to impair phonological awareness, a key skill required for reading (Ramus, 2003). Research supporting this theory has found correlations between early speech issues (Chapman, 2011), poor hearing (Boscariol, Andre, & Feniman, 2009; Collett, Stott-Miller, et al., 2010) and reading outcomes.

However, there have been some criticisms of this theory. Research within the general population has shown normal phonological development in persons with severe speech disabilities (Ramus, Pidgeon, & Frith, 2003), which suggests that phonological representations are not solely a product of speech articulation (Ramus et al., 2003). Second, there are studies among people with NSCL/P that demonstrate no relationship between articulation, hearing, and reading or language outcome (Ceponiene, Haapanen, Ranta, Naatanen, & Hukki, 2002; Hentges, et al., 2011; Lamb, et al., 1972; Shriver, Canady, Richman, Andreasen, & Nopoulos, 2006). These findings suggest that there may be something more than disrupted speech or hearing influencing language and reading skills among people with NSCL/P.

In order to better understand the neurological underpinnings of these outcomes, some research has evaluated neuropsychological skills associated with reading (i.e., phonological awareness, rapid labeling, and auditory/visual memory). Studies have shown related deficiencies in rapid labeling and auditory/visual memory compared to controls (Brennan & Cullinan, 1974; Ceponiene, et al., 2002; Ceponiene et al., 1999; Nopoulos, Berg, VanDemark, et al., 2002; Richman & Ryan, 2003; Richman, et al., 2005; Smith & McWilliams, 1968). Although, there has been some research that has found no differences in reading or these related skills (Chapman, 2011; Collett, Leroux, & Speltz, 2010; Smith & McWilliams, 1968).

In support of a theory of neuropsychological deficits, our laboratory has documented abnormal brain structure in both children (Nopoulos, Langbehn, Canady, Magnotta, & Richman, 2007) and adults with NSCL/P (Nopoulos, Berg, Canady, et al., 2002; Nopoulos et al., 2005). These changes in brain structure are hypothesized to be due to abnormal brain development that occurs in parallel with the abnormality in facial development. Establishing a relationship between reading performance and specific language-based neuropsychological skills would support the notion that the reading disabilities may be rooted in abnormal brain structure and function, rather than a secondary effect from deprivation of sensory input.

One weakness in this body of literature is that the majority of recent research evaluating language and reading skills are focused on younger subjects (maximum age around 8 years old), in whom reading skills are just starting to develop. A close evaluation of articulation, hearing, neuropsychological skill, and reading among an older sample, where reading skill is stronger or more established, is lacking.

The purpose of this study was to obtain measures of word reading, neuropsychological skill, speech production, and history of hearing in children, adolescents, and young adults with NSCL/P. Key questions for evaluation included: 1) What is the effect of sex, age and group membership on reading outcome for subjects with and without cleft? 2) What is the relationship of reading skill to measures of neuropsychological skill, speech, and hearing? It was hypothesized that reading skill would increase with age for all subjects; however, there may be a group-by-age interaction where reading for subjects with NSCL/P is discrepant at younger ages and “catches-up” in young adulthood. It was also expected that neuropsychological skill would be associated to reading outcome, but results for speech and hearing were not predicted.

Reading in subjects with an oral cleft: speech, hearing and neuropsychological skills.

Orofacial clefts are among the commonest birth defects. Among many genetic contributors to orofacial clefting, Interferon Regulatory Factor 6 (IRF6) is unique since mutations in this gene cause Van der Woude (VWS), the most common clefting syndrome. Furthermore, variants in IRF6 contribute to increased risk for non-syndromic cleft lip and/or palate (NSCL/P). Our previous work shows that individuals with either VWS or NSCL/P may have cerebral anomalies (larger anterior, smaller posterior regions), and a smaller cerebellum. The objective of this study was to test the hypothesis that disrupting Irf6 in the mouse will result in quantitative brain changes similar to those reported for humans with VWS and NSCL/P. Male mice heterozygous for Irf6 (Irf6gt1/+; n = 9) and wild type (Irf6+/+; n = 6) mice at comparable age underwent a 4.7T MRI scan to obtain quantitative measures of cortical and subcortical brain structures. There was no difference in total brain volume between groups. However, the frontal cortex was enlarged in the Irf6gt1/+ mice compared to that of wild types (p = 0.028) while the posterior cortex did not differ. In addition, the volume of the cerebellum of Irf6gt1/+ mice was decreased (p = 0.004). Mice that were heterozygous for Irf6 showed a similar pattern of brain anomalies previously reported in humans with VWS and NSCL/P. These structural differences were present in the absence of overt oral clefts. These results support a role for IRF6 in brain morphometry and provide evidence for a potential genetic link to abnormal brain development in orofacial clefting.

/pdf/haploinsufficiency-of-interferon-regulatory-factor-6-alters-2k7cu8xx5g.pdf

Haploinsufficiency of interferon regulatory factor 6 alters brain morphology in the mouse

Late preterm birth (34–36 wk gestation) is a common occurrence with potential for altered brain development. This observational cohort study compared children at age 6–13 y based on the presence or absence of the historical risk factor of late preterm birth. Children completed a battery of cognitive assessments and underwent magnetic resonance imaging of the brain. Late preterm children (n = 52) demonstrated slower processing speed (P = 0.035) and scored more poorly in visual-spatial perception (P = 0.032) and memory (P = 0.007) than full-term children (n = 74). Parents of late preterm children reported more behavioral difficulty (P = 0.004). There were no group differences in cognitive ability or academic achievement. Imaging revealed similar intracranial volumes but less total tissue and more cerebrospinal fluid (P = 0.004) for late preterm children compared to full-term children. The tissue difference was driven by differences in the cerebrum (P = 0.028) and distributed across cortical (P = 0.051) and subcortical tissue (P = 0.047). Late preterm children had a relatively smaller thalamus (P = 0.012) than full-term children. Only full-term children demonstrated significant decreases in cortical tissue volume (P < 0.001) and thickness (P < 0.001) with age. Late preterm birth may affect cognition, behavior, and brain structure well beyond infancy.

/pdf/altered-brain-function-structure-and-developmental-2iy1dwnjm2.pdf

Altered brain function, structure, and developmental trajectory in children born late preterm.

Isolated cleft lip and/or palate (ICLP) is one of the most common congenital birth defects in the USA, affecting roughly 1 in 600 births annually. Along with the facial deformity, this population has been found to have abnormal neurodevelopment and gross structural abnormalities in the brain, particularly within the cerebellum. The current study examined cerebellar structure within the two primary subtypes of ICLP: cleft lip with/without cleft palate (CL/P) and cleft palate alone (CPO). A large sample of 107 subjects aged 7 to 27 years with ICLP was compared to 127 healthy controls. Samples were separated by sex. Brain structure was obtained via magnetic resonance imaging. For males, after controlling for intracranial volume, cerebellum volume was significantly lower in the ICLP group (F = 12.351, p = 0.001). Regionally in the cerebellum, males with ICLP had proportionally larger anterior lobes (F = 4.022, p = 0.047) and smaller superior posterior lobes (F = 5.686, p = 0.019). CL/P males showed only a reduction in overall cerebellum volume, with no regional changes. CPO males showed only regional changes, with no reduction in overall volume. Females with ICLP showed no overall or regional cerebellar abnormalities. However, females with CPO did have significantly lower cerebellum volumes than controls. The results reveal both global and regional cerebellar abnormalities within subjects with ICLP. They also establish the existence of abnormal cerebellar morphologies that are dependent on cleft subtype as well as sex. This lends further support to the claim that CL/P and CPO are distinct conditions.

/pdf/abnormal-cerebellar-structure-is-dependent-on-phenotype-of-epv0ohstq2.pdf

Abnormal Cerebellar Structure Is Dependent on Phenotype of Isolated Cleft of the Lip and/or Palate

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Reading in subjects with an oral cleft: speech, hearing and neuropsychological skills.

Haploinsufficiency of interferon regulatory factor 6 alters brain morphology in the mouse

Altered brain function, structure, and developmental trajectory in children born late preterm.

Abnormal Cerebellar Structure Is Dependent on Phenotype of Isolated Cleft of the Lip and/or Palate