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Recently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene (We report two siblings, diagnosed with You-Hoover-Fong syndrome at the age of 28 and 14 months. Both were genetically studied to find the cause of their developmental delay and microcephaly.The identical compound heterozygous missense mutations in theWe report nuclear-lamellar cataracts in two siblings diagnosed with You-Hoover-Fong syndrome.

Babies who are exposed to high-risk factors during pregnancy, delivery, or immediately after birth are termed as high-risk babies. Preterm and birth-asphyxiated babies account for most of the high-risk babies, and these high-risk babies are at risk of adverse neurodevelopmental outcome. The adverse neurodevelopmental outcomes vary from mild motor and language delay to global delay, hearing and visual impairments, seizures and also long-term intellectual impairment, academic underachievement, and learning difficulties, thereby posing increased burden to family, society, and nation as well. Regular and close follow-up of any high-risk babies with early identification of any delay and early intervention with multidisciplinary approach will help to enhance the optimal development.

Introduction: With increasing survival of high risk babies, children with different developmental disabilities have emerged as a challenge for the baby, family as well as for physicians. With limited awareness and resources, follow-up and interventions for these babies are difficult. The study was carried out to find out the development of high risk babies in different developmental domains at one year of age.Material and Methods: NICU graduates who visited high risk clinic at one year of age were assessed. ASQ-3 was used to screen development. Children with major congenital anomalies and syndromes were excluded from the study.Results: Out of 28 high risk babies, about 29% had global delay. Those babies who had seizure during neonatal period could not score even in single item of ASQ-3. Conclusion: All high risk babies are at risk of developing delay hence should be followed up regularly. Timely early intervention needs to be started to minimize delay.

Introduction Development is the period of physical, cognitive and social growth that begins at birth and continues through childhood. Between 1–3% of children suffer from global delay. Maximum development occurs in the first two of years of life .Early recognition of developmental issues is important to have a better outcome, appropriate referral and involvement of other services. Aim Aims of the audit is to see the awareness among NCHD(non consultant hospital doctors) towards development assessment and documentation in clinical letters of patients coming to clinic from Jan 2018 to July 2018. Methodology Retrospective audit was done from January 2018 to July 2018. A Proforma was designed and random clinic letters of patients attending paediatric clinic were screened for documentation of all six areas of childhood development (gross motor, fine motor vision ,hearing ,speech and language and social) seen by NCHD. Results Total 70 patients were included in the audit. 45 male and 55 female patients. Age range varies from 3 months to 13 years. 35 (50%) of the patients were below 5 years of age. Childhood development was mentioned in 30(43%) of patients. 40 (57%) patients have no records of being screened for appropriate age related developmental milestones. Out of 70 only 6 patients (8%) have their proper documentation about the development indicating all six areas of development. Regarding different areas of development documentation was as follows: Gross motor 14(20%) Fine motor 10(14%) Vision 07(10%) Speech 12(17%) Hearing 06(08%) Social 11(15%) Conclusion Developmental assessment is a neglected area in general paediatrics clinic settings. Outcome about the documentation of general paediatric development assessment was very poor as 57% of the patients have no records of any development assessment in clinic. Recommendations Awareness should be raised among NCHDs about the importance of developmental assessment in children coming to clinic. A regular training session for new doctors about routine developmental screen at the start of rotation may be helpful. There should be a brief developmental check list and clinic letter layout displayed in clinic area settings. More opportunities should be given to NCHDs to attend developmental clinics

Motor stereotypy behaviors are patterned, coordinated, repetitive behaviors that are particularly evident in those with an autistic spectrum disorder and intellectual disabilities. The extent to which motor stereotypy behavior severity is associated with motor skills and maladaptive behavior, measures of adaptive functioning, along with fundamental movement skills and degree of autistic spectrum disorder symptomology is assessed in this preliminary report. Twelve participants, aged 7 to 16 years, with a reported motor stereotypy behavior and either mild or severe intellectual disability comprising developmental or global delay took part in the study. Spearman rho correlational analysis showed that severity of motor stereotypy behavior was significantly positively correlated with autistic spectrum disorder symptomology ( P = .008) and maladaptive behavior ( P = .008) but not fundamental movement skills ( P > .05). An increase in fundamental movement skills score was associated with a decrease in autistic spectrum disorder symptomology ( P = .01) and an increase in motor skills ( P = .002). This study provides evidence showing a significant relationship between motor stereotypy behavior severity with degree of autistic spectrum disorder symptomology and maladaptive behavior.

Global time delay is introduced to a bistable system driven by multiplicative and additive noises. Approximation of small delay and numerical simulations are employed to investigate the delay induced transition. The stationary probability distribution function \(P_{st}(x)\) and the first order moment \(\langle x\rangle _{st}\) are derived. Results indicate that with the increase of global time delay, \(P_{st}(x)\) undergoes a transition from a bimodal structure to a unimodal shape and \(\langle x\rangle _{st}\) as a function of the multiplicative noise intensity exhibits suppression-like and resonance-like behavior. For the case of multiplicative noise with delay, \(P_{st}(x)\) undergoes a transition from a monostable to a bistable system. These results illustrate that global delay can control the transition of a bistable system effectively.

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Well-intended efforts to diagnose a child's developmental delay may have unintended negative consequences for a child and his family. Consequently, clinicians may feel caught in a moral dilemma: between doing the good they seek and avoiding the harm they foresee. The dilemma is that when investigating global developmental delay it is not possible to avoid all the anticipated negative outcomes of genetic testing and concurrently fulfill our obligations to do the good from which these harmful effects result. It is imperative to recognize dilemmas especially where the moral questions or relevant facts are not as clear cut as in ethics textbooks and to bring their moral questions into a structured dialogue with the patient and his or her family. A modified principle of double effect is a useful method for deliberating about these moral cases. Three case examples illustrate the utility of the principle of double effect when investigating global developmental delay.

In this case study, research was conducted in an integrated preschool setting, which included children with a variety of disabilities as well as children who were considered to be typically developing. “Jay,” the subject of this study, was a 3-year-old boy who, at 2 years of age, had been diagnosed as having autism and a “global delay,” meaning he had a delay in all areas of development. Participant observation research was used in this study. Play skills were taught in a structured teaching method, which was modeled after Treatment and Education of Autistic and Related Communication Handicapped Children, otherwise known as division TEACCH. Researchers sought answers to questions such as, “If play strategies are taught (such as how to play with age-appropriate toys), what would be the effect on social interaction of the autistic child with typically developing peers?” Observations were conducted during structured teaching, free choice play time, and group activities. At the end of the nine-week p...

Previous work has demonstrated both that there are substantial individual differences in the rate of physiological development, and that infants with risk factors for Sudden Infant Death Syndrome (SIDS) develop more slowly, suggesting that their increased vulnerability may be due to delayed neuronal development associated with compromised development in fetal or early neonatal life. This project aims to test the hypothesis that individual differences in the rate of physiological development of infants correlate with measurable differences in the rate of brain development as assessed by magnetic resonance imaging (MRI). Sixty infants were recruited to this study in three different groups that are known to have differing rates of physiological development. MRI was performed successfully in 49 cases at 6 weeks of age without sedation. Forty-one of these cases had full follow-up (15 normal; 19 IUGR; 11 ‘high risk’). Postnatal physiological development was assessed by measuring age-related deep body temperature patterns during sleep. Neuronal development was assessed by subjective analysis of MRI images and objective measurements relating to myelination using T1 and diffusion weighted (23 cases) MRI images. As expected the normal group acquired the adult temperature pattern earlier, but this was not statistically significant. All MRI scan appearances were within normal limits. Ranking cases subjectively in order of maturity revealed no significant pattern. The normal group had a significantly higher myelination score than the IUGR and ‘high risk’ groups (P = 0.001). This trend was also shown by the diffusion weighted myelination score but did not reach statistical significance. No significant differences were seen in both the subjective and objective MRI measurements and development of nocturnal temperature patterns. The results suggest there may be differences in neurodevelopment between the different groups at 6 weeks of age but these are not linked to late development of temperature patterns. It is therefore unlikely that this related to a global delay in maturation.

International audience; Global delay independent stability is analyzed for nonlinear time-delay systems applying homogeneity theory. The results of [1] are extended to the case of non-zero degree of homogeneity. Several tools for stability analysis in time-delay systems using homogeneity are presented: in particular, it is shown that if a time-delay system is homogeneous with nonzero degree and it is globally asymptotically stable for some delay, then this property is preserved for any delay value, which is known as the independent of delay (IOD) stability. The results are illustrated by numerical experiments.

The study of stability is essential for designing or controlling genetic regulatory networks, which can be described by nonlinear differential equations with time delays. Much attention has been paid to the study of delay-independent stability of genetic regulatory networks and as a result, many sufficient conditions have been derived for delay-independent stability. Although it might be more interesting in practice, delay-dependent stability of genetic regulatory networks has been studied insufficiently. Based on the linear matrix inequality (LMI) approach, in this study we will present some delay-dependent stability conditions for genetic regulatory networks. Then we extend these results to genetic regulatory networks with parameter uncertainties. To illustrate the effectiveness of our theoretical results, gene repressilatory networks are analyzed .

Dissertação de Mestrado em Psicologia Clínica, apresentada ao ISPA - Instituto Universitário O presente trabalho trata-se de um estudo, onde é apresentado um caso clínico. Com ele constitui-se como objetivo analisar uma criança com 6 anos de idade, que nasceu portadora de um atraso global no desenvolvimento. Esta criança esteve em estudo genético desde 2007 até maio de 2012. Após uma exaustão de intervenções foi identificada uma deleção no cromossoma 8. Os instrumentos utilizados tiveram em consideração as características da criança. Realizou-se a história de vida da criança, desenhos espontâneos ao longo do percurso de investigação, e a aplicação da Escala de Avaliação das Competências no Desenvolvimento Infantil – SGS II, para avaliar o grau de maturidade. De um modo geral, Nuno revela ter um quociente cognitivo de 30 meses, o que evidencia o atraso global no desenvolvimento. Os dados das avaliações mostram que Nuno tem as suas competências mais desenvolvidas a nível da visão, da audição e da autonomia pessoal, sendo as suas competências mais fracas nas áreas locomotora na fala e linguagem. Em conclusão, o estudo evidência que o menino apresenta um quadro de deficiência mental grave. No entanto Nuno revela ter aptidão para desenvolver as suas capacidades, visto desde o início da investigação (de outubro de 2011 até outubro de 2012), ter demonstrado alguns progressos, nomeadamente na interação social e na autonomia pessoal. Nuno poderá evoluir dentro do seu perfil, através de estimulação adequada. No entanto irá sempre apresentar um desfasamento importante quando comparado com crianças da mesma idade cronológica. ABSTRACT: The present work deals with a study, where a clinical case is presented. It is designed to analyze a child under 6 years of age, who was born with a global development delay. This child was been study genetic from 2007 until may 2012. After an exhaustion of interventions was identified a deletion on chromosome 8. The instruments used were the characteristics of the child. The history of the child's life, spontaneous drawings along the way of research, and the application of the scale of assessment of skills in child development-SGS II, to evaluate the degree of maturity. Generally speaking, Nuno reveals to have a 30-month cognitive quotient, which highlights the global development delay. The data of the evaluations show that Nuno has the most developed their skills at the level of vision, hearing and of personal autonomy, being the weaker competences in locomotor in speech and language. In conclusion, the study shows the boy has a serious mental deficiency. However Nuno, reveals to have ability to develop their capacities, seen from the beginning of the investigation (October 2011 until October 2012), have shown some progress, particularly in social interaction and personal autonomy. Nuno can develop within your profile, through adequate stimulation. However will always present a significant diference when compared with children of the same chronological age.

Parents of children with significant behavioral or emotional problems have tended to be concerned about their behavior or emotional well-being, whereas parents of children with speech-language impairments were more concerned about speech-language development. The present study was designed to assess whether a parallel relationship between type of parental concern and type of developmental problem continues when children have global delays. Subjects were 95 parents and their children from birth to 6 years of age who attended day-care centers. Parents' concerns were categorized into developmental domains. Children were given a criterion battery of intelligence and adaptive behavior tests. Global delay was identified in 18 children (19%). Concerns about global development were raised by only 5% of all parents. Concerns about speech-language and/or behavior were sensitive in detecting global deficits (83%), while the absence of such concerns had modest specificity in detecting normal development (47%). Parents' concerns continue to be useful in prescreening and can identify patients in need of further screening. However, pediatricians should anticipate that parents of children with global delays may raise concerns, not about global development, but rather about behavior/emotional status and/or speech-language skills. The best response to such concerns is to administer screening measures which assess multiple developmental domains.

In this paper, we investigate random walk based routing in wireless sensor networks (WSN) that contains sink nodes independently distributed at random. Our goal is to quantify the effectiveness of such techniques based on the derivation of closed-form expressions. In particular, we focus on the global delay taken for the random walk to deliver data packets from sensor to sink nodes and study its statistics through closed-form derivations. At low concentration of sink nodes, we analytically establish an approximate formula that provides the cumulative distribution function of the global delay. We also perform a series of simulations to validate the analytical results. These simulation studies clearly agree with the analytical results provided that the concentration of sink nodes remains small. The main result of this paper is that the performance of data gathering based on random walks in randomized deployment can be significantly enhanced if the concentration of sink nodes is well tuned.

Exponentially decreasing upper and lower bounds for the energy of a general RC network are derived. They give simply computable bounds for the global delay time.

Objetivo: Estudiar la eficacia de los sistemas informatizados en las Áreas de Radiología y Laboratorio en la reducción del tiempo de espera de los pacientes en un programa de alta resolución en la consulta externa de medicina interna. Material y método: Se analizó durante un año la demora de las pruebas diagnósticas solicitadas en el día (laboratorio, radiología simple, ecografía y TAC craneal) y el tiempo de espera de los pacientes según el método convencional (312 peticiones cuyos resultados eran enviados a través de celadores o personal auxiliar) o el método informatizado (457 peticiones vía intranet). Resultados: Se observó una reducción media del 10% en la demora global, aunque las diferencias sólo fueron significativas para la TAC (12,7%) y el laboratorio (19%). La reducción media del tiempo de espera del paciente fue del 11,7% que osciló según fueran una (7,8%) o dos (13,2%) las pruebas solicitadas. El porcentaje de pacientes que esperaron más de 3 horas la llegada de sus resultados se redujo de forma significativa. Discusión: El uso de sistemas automatizados de transmisión de las exploraciones complementarias produjo una reducción del tiempo de espera de los pacientes. Sin embargo, los resultados no afectaron de forma homogénea a las distintas técnicas. Objective: To analyse the impact of computerised systems in Radiology and Laboratory Departments on the reduction in the waiting time of the patients attending to an Internal Medicine outpatient consultation organised in a high resolution model. Methods: For one year, we studied the delay in diagnostic explorations (laboratory test, simple radiology, ultrasonic diagnostics and brain scanner) that were all applied for and performed in a single day. We compared the traditional organization (n = 312 explorations), in which the results were handed in by hospital auxiliary staff, to a computerised method (n = 457 explorations), which was implemented via our intranet. Results: The global delay decreased 10% in average, the differences being significant only for the variables "brain scanner" (12.7%) and "laboratory" (19%). The average reduction in the waiting time per patient was 11.7%, ranging from 7.8% (when only one exploration was performed) to 13.2% (when 2 explorations were carried out). The percentage of patients who needed to wait more than 3 hours to receive their results also diminished significantly. Conclusion: The implementation of computerised systems reduced the waiting time to receive the results of complementary explorations. However, our results were not homogeneous for the different explorations.

To the Editor: The recently published practice parameter concerning the evaluation of the child with global developmental delay (GDD) is flawed by the authors’ decision to reinterpret this perfectly clear term, which has always been understood to encompass cognitive delay, in such a fashion that a child with delays in only two of five domains would be thus classified.1 Thus a child with cerebral palsy and consequent impairment in motor and activities of daily living skills, but without cognitive, social, or language impairment, would meet the authors’ definition. This stands in contradiction to the literature that they cite (authors’ references 3–7) in support of their definition. It further contradicts the authors’ statement elsewhere that global delay is to be distinguished from autistic spectrum disorder: on the basis of their definition, such a distinction would not be possible. It is also troubling to see an unmodified recommendation for routine MRI studies in the abstract: this was appropriately modified in the text. As presented, this parameter would appear to have been approved by the Practice Committee of the Child Neurology Society (CNS) as well as the American Academy of Neurology (AAN) Quality Standards Subcommittee (QSS). As a member of the CNS Practice Committee, I would like to raise some procedural concerns. When polled at the last of the two Practice Committee meetings where this parameter was (briefly) presented, only one member expressed approval of the definition. However, abstaining votes from absent members were counted as approving (abstention from commentary has usually meant failure to read, an acknowledged problem in this committee) and request for simultaneous publication of a dissenting opinion was denied by the Co-Chair of the QSS, who …

This study aimed at assessing the impact of physical training on psychological functioning at the onset of a prospective study of psychological and somatic maturation of adolescent female athletes.Twenty-seven highly trained gymnasts aged 12.7 +/- 1.1 year (mean +/- SD, training load = 18-26 hr/week) and 16 age-matched but moderately trained swimmers (13.0 +/- 0.9 yr, training load 4-15 hr/wk) were submitted to standardized somatic and psychiatric examinations during training camps.Gymnasts were significantly shorter, lighter and thinner (p0.001) than swimmers. Their bone age was moderately but significantly retarded (-1.42 +/- 0.99 yr, p0.001) in contrast with swimmers in whom it was adequate for chronological age (+0.28 +/- 0.94 year, ns). Only 7.4% of gymnasts had already had menarche in contrast with 50% of age-matched swimmers (p = 0.003). Psychological functioning was considered as normal in all subjects. However, seven athletes including 3/27 gymnasts and 4/16 swimmers (p = 0.394) were considered as subjects "at risk" to develop a manifest mental disorder over time. Ten gymnasts (41.7%) presented with a global delay in psychological maturation, whereas no such case was observed among swimmers (p = 0.015). No correlation could be established between psychological delay and pubertal retardation (p = 0.210).Strenuous training in gymnastics for more than 1 yr has so far no detectable interference with the normal maturational events of adolescence. The outcome of athletes at risk to develop psychopathology as well as those with a global delay in psychological maturation who presented as if they were still in the latency period, remains uncertain.

The effects of time delay on the fluctuation properties of a bistable system are investigated by simulating its normalised correlation function C(s). Three cases including linear delay, cubic delay and global delay in the system are considered respectively. The simulation results indicate that the linear delay enhances the fluctuation of the system (reduces the stability of the system) while the cubic delay and global delay weaken it (enforce the stability of the system), and the effect of cubic delay is more pronounced than the linear delay and global delay.

A 9-month-old boy had a short history of “yes-yes” head bobbing (video on the Neurology ® Web site at www.neurology.org). Mild global delay prompted investigation. Imaging (figure, A–C), biochemical, and molecular findings (table e-1) were consistent with succinic semialdehyde dehydrogenase …

In this journal, Chitayat et al. reported on 2 boys and a girl with interstitial deletion in the short arm of chromosome 4, including p15.2p15.33. All 3 patients had a characteristic face distinct from that of Wolf-Hirschhorn syndrome and multiple minor congenital anomalies. One patient had a congenitally enlarged penis. The authors noted that all had normal growth, and all had moderate psychomotor retardation (patient 1, developmental age of 4-6 years at age 9 years; patient 2, mental age 6 years at age 25 years; and patient 3, global delay with hypotonia, difficulties in both gross and fine motor development, and persistent delay in language skills). 5 refs., 1 fig.

This paper presents potentially interesting data derived by chance while conducting a much larger study of families of children with global delay. The data relate to a comparison of aspects of the maternal language environment of working-class children with and without language delay, and to the mothers' perceptions of their children. In free play, mothers of children with language delay were found to talk less and to use proportionally more commands. However, these differences disappeared in an instruction situation. These findings were considered in relation to the fact that mothers of the delayed children construed their children in a somewhat more negative way. Although it was not possible to draw causal inferences, the results were discussed in relation to the implications for the subsequent development of the child and intervention strategies generally.