Ocular defects in children with cerebral palsy

Bone health of children with cerebral palsy

In a large, retrospective, population-based cohort, Diana Schendel and her co-workers in Atlanta have studied the prevalence of major birth defects among children with autism spectrum disorders (ASD). The prevalence of autism in children with birth defects and the risk of autism associated with having such defects was also investigated.1 Such an approach may contribute to the understanding of the aetiological pathways in autism, especially regarding first trimester origin, resulting from genetic or exogenous interference with development. Schendel et al. emphasize the phenotypic diversity within the autism spectrum, especially the co-occurrence of intellectual impairment, which in itself is strongly associated with major birth defects. The authors use the term autism to refer to the three most common ASDs: autistic disorder, Asperger syndrome, and pervasive developmental disorder, not otherwise specified. They also separate autism into the following two subgroups: autism with no other developmental disorder and autism combined with at least one accompanying developmental disorder. The large study cohort was identified through the Metropolitan Atlanta Developmental Disabilities Surveillance Program that includes children with different developmental disabilities, such as intellectual impairment, autism, cerebral palsy, hearing loss, and vision loss, and the Metropolitan Atlanta Congenital Defects Program for the identification of major birth defects. The prevalence of birth defects in children with autism, evaluated between the ages of 3 and 10 years, was found to be 6.4%, which was about twice the rate in children without autism. The studied birth defects were mainly in the central nervous system/eye, or the genitourinary, musculosketelal, cardiovascular, head/neck, respiratory, oral, and gastrointestinal systems. Syndrome/chromosomal abnormalities constituted a separate category. The prevalence of autism increased twofold in children with birth defects, especially if the defect was combined with other developmental disorders, particularly intellectual disability. The risk that autism may be under diagnosed in children with major birth defects accompanied by medical sequelae is an important notion and a clinical reality. The reported findings of an association between central nervous system/eye defects and autism give clues to prenatal timing, which could also be exemplified by optic nerve hypoplasia and by the different eye malformations, mainly colobomas, related to the CHARGE syndrome. The authors report a prevalence of syndrome/chromosomal defects of 1% in children with autism and in 1.3% if other developmental disorders co-occurred. The rate of Down syndrome was 1% among children with autism and other developmental disorders and the rate of autism among children with Down syndrome was 1.7%. However, Schendel et al. suggest that this rate may be underestimated. The risk of under ascertainment of autism in children with Down syndrome has also been pointed out by Rasmussen et al. since it is commonly believed that children with Down Syndrome have superior social abilities.2 Schendel et al. discuss important factors that contribute to the increased association between Down syndrome and autism. Such factors were also considered in the study by Rasmussen et al.,2 who in addition reported that five out of 25 children with Down syndrome and autism had experienced infantile spasms with hypsarrythmia during infancy. The pathogenesis of hypsarrhythmia has recently been studied in children with infantile spasms using elecetroencephalograms and, simultaneously, functional magnetic resonance imaging (fMRI)3 revealing a hypsarrhythmia-specific activation of different neuronal networks in cortex and subcortical structures such as the brainstem, thalamus, and putamen. The data studied by Schendel et al. was gathered more than 10 years ago and the authors mention that genetic diagnoses may be underrepresented. The ability to identify genetic syndromes associated with malformations has increased during the past decade. Several syndromes are associated with ASDs and the microarray technique has revealed abundant copy number variations with duplications, deletions, and rearrangements of DNA which has, accordingly, contributed to the identification of new syndromes. In addition, there are also malformation syndromes associated with autism that are not indisputably genetic, as illustrated by the Möbius sequence and the oculoauriculovertebral spectrum.4 Similarly, there are acquired malformations, such as the valproic acid, thalidomide, and the foetal alcohol syndromes that are related to an ASD phenotype. New MRI techniques have given new insights into the aetiopathogenetic mechanisms in autism. Boddaert et al.5 found an unexpectedly high rate of MRI abnormalities (48%) in their large series of clinical MRI investigations in non-syndromic autism. Three predominant types of brain anomalies were found: white matter hyperintensity, temporal lobe signal abnormalities, and dilated Virchow–Robin spaces, i.e. dilatations of the perivascular space that surrounds penetrating arteries. The study by Schendel et al. elucidates the importance of different diagnostic concepts, i.e. differentiating between aetiological diagnoses and diagnoses based on impaired functions and/or behaviours. Whenever a child has been diagnosed with a developmental disorder such as autism, learning disability*, or cerebral palsy, there is a need for further considerations and relevant aetiological investigations. Thus, the paper also highlights that children with developmental disorders need a multidisciplinary approach, including collaboration between different specialists both in the assessment procedure and at follow-up.

After completing this article, readers should be able to: 1. Describe the outcomes of assisted reproductive technologies (ART) for singleton, twin, and other multiple births. 2. Describe the role of fertility in adverse outcomes seen with ART births. 3. Review the association of birth defects with ART. 4. Delineate the association of disease of genomic imprinting with ART. 5. Describe the relationship between ART and the subsequent incidence of neurodevelopmental sequelae. In the 1977 ruling “Carey v. Population Services International,” the United States Supreme Court ruled that the decision to bear children is constitutionally protected. (1) Significant interest already had been shown in the development and improvements of in vitro fertilization (IVF) for infertile couples. The first human pregnancy and human birth using IVF were reported by Steptoe and Edwards in the United Kingdom. (2) Their work resulted in the first baby born via reproductive technologies, Louise Brown, born on July 25, 1978, at Oldham General Hospital in Oldham, United Kingdom. (3) She was born via a planned cesarean section, and her birthweight was 2.61 kg. The first successful viable IVF in the United States was performed by Jones and Seager-Jones in 1981 in Norfolk, Virginia. (4) Assisted reproductive technologies (ART) have seen a recent surge in popularity. The Centers for Disease Control and Prevention (CDC) reported that 122,872 cycles of ART were initiated in 2003, resulting in the delivery of 48,756 neonates, (5) accounting for approximately 1% of all neonates delivered in the United States. The percentage is higher in many countries, including Denmark, where it is estimated that 5% of all deliveries are with the assistance of ART. (6) Couples pursue ART for myriad reasons, including tubal transport factors, ovulatory dysfunction, uterine factors, endometriosis, male- and female-specific factors, and when a cause of infertility is unknown. (5) It would be very …

To assess the need for eye care in children and adolescents with severe mental deficiency, a cross-sectional study of the prevalence and causes of ocular defects amongst these individuals was conducted. Two hundred and sixty residents in a mental handicap unit were examined from January 1992 to June 1993. It was found that there was an unusually high prevalence of severe visual impairment (25%), refractive errors (24%), squint (8%) and a number of organic ocular diseases (8%). All the patients studied were non-verbal and 18% of them were deaf. Only 23 patients could walk. The results emphasize the need for establishing an efficient system to provide regular ophthalmic care for children with severe mental deficiency.

This study was designed to investigate birth defects found in association with newborn encephalopathy. All possible birth defects were ascertained in a population-based study of 276 term infants with moderate or severe encephalopathy and 564 unmatched term control infants. A strong association between birth defects and newborn encephalopathy was found with defects affecting 27.5% of children with encephalopathy and 4.3% of control children (odds ratio 8.55; 95% confidence interval 5.25 to 13.91;p<0.001). In 11.8% of infants with a birth defect the defect was not diagnosed until after the newborn period, illustrating one of the difficulties in attempting to exclude infants with birth defects from studies of newborn encephalopathy. The majority of defects (89%) were not specific anomalies of the CNS. In 36.8% of children with encephalopthy who had a birth defect, the defect was considered to be the probable cause of the encephalopathy. Infants with birth defects who had encephalopathy had a poorer prognosis than those without: they were twice as likely to die by the age of 2 years and three times more likely to have cerebral palsy. This study catalogues the spectrum of birth defects associated with newborn encephalopathy and illustrates the importance of their inclusion when investigating both the aetiology and outcome of this condition.

Целью исследования было определение соотношения двух основных механизмов гидроцефалии и гидроцефальных синдромов — внутричерепной гипертензии и церебральной атрофии (гипотрофии) в структуре различных болезненных состояний у детей. Методом комплексного динамического определения структурно-органического внутричерепного дефекта у детей проведена дифференциальная диагностика двух основных патогенетических типов гидроцефалии и гидроцефальных синдромов у 483 детей, пролеченных в отделении для детей с поражением центральной нервной системы и психики в 2011–2014 годах. В результате исследования установлено значительное преобладание церебральной гипотрофии. Ликворная гипертензия была достоверной причиной расширения ликворных пространств только в 5,1 % случаев у больных с детским церебральным параличом в 19 % случаев в группе детей с последствиями пре-, перинатальной патологии нервной системы.Обсуждение результатов исследования позволило определить пути совершенствования методов диагностики и классификации гидроцефалии и гидроцефальных синдромов для проведения их адекватной дифференцированной терапии.Выводы. Учитывая вторичный характер расширения ликворных пространств при гипотрофии мозга предложено использовать термин «гипотрофически-гидроцефальный синдром» в структуре диагноза первичного заболевания, вызвавшего гипотрофию головного мозга.

MRI for neonatal encephalopathy in full-term infants

Purpose:- To determine the causes and spectrum of ocular abnormalities in children with Cerebral palsy (CP). Methods:- A total of 80 children with cerebral palsy attending in Chittagong Eye Infirmary &amp; Training Complex underwent a comprehensive ophthalmic and optometric examination. The examinations were consist of assessment of visual acuity, extra ocular motility, binocular single vision, accommodative status, anterior and posterior segment evaluation; Cycloplegic refraction and funduscopy were performed in all cases. Results:- A total 80 children aged between 06 months to 10 years (mean 2.31±2.18 years) with CP were included in the study, 67.5% were males and 32.5%were females .Majority of cases were spastic CP 43(53.8%). Intranatal assault (47.29%) comprises the major causes of CP. Ocular abnormalities were noticed in 94.7% of the children. The major ocular abnormalities were refractive errors 70 (87.7%) and strabismus 34 (42.5%). Conclusion:- Birth asphyxia due to prolonged labor causing convulsion is the main causes of CP. Ocular abnormalities are common among CP children. Early identification of treatable ocular defects and their treatment along conventional lines is emphasized. A full eye examination should be sought as soon as a diagnosis of CP is made and yearly thereafter.