Retarded Motor Development Research Articles

Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.

Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterized by muscle weakness and hypotonia, slow gross motor development, and decreased respiratory function. Mutations in at least twelve genes, all of each encode proteins that are either components of the muscle thin filament or regulate its length and stability, have been associated with NM. Mutations in Nebulin (NEB), a giant filamentous protein localized in the sarcomere, account for more than 50% of NM cases. At present, there remains a lack of understanding of whether NEB genotype influences nebulin function and NM-patient phenotypes. In addition, there is a lack of therapeutically tractable models that can enable drug discovery and address the current unmet treatment needs of patients. To begin to address these gaps, here we have characterized five new zebrafish models of NEB-related NM. These mutants recapitulate most aspects of NEB-based NM, showing drastically reduced survival, defective muscle structure, reduced contraction force, shorter thin filaments, presence of electron-dense structures in myofibers, and thickening of the Z-disks. This study represents the first extensive investigation of an allelic series of nebulin mutants, and thus provides an initial examination in pre-clinical models of potential genotype-phenotype correlations in human NEB patients. It also represents the first utilization of a set of comprehensive outcome measures in zebrafish, including correlation between molecular analyses, structural and biophysical investigations, and phenotypic outcomes. Therefore, it provides a rich source of data for future studies exploring the NM pathomechanisms, and an ideal springboard for therapy identification and development for NEB-related NM.

A40: An Experimental Study on the Effect of Intelligent Motor Intervention on Motor Ability of Infants with Motor Retardation

Purpose: Early exercise intervention is particularly important for the improvement of motor ability in young children with delayed motor development. In this study, the effect of intelligent exercise online intervention on the motor ability of slow motor development in children aged 3 to 6 years was verified by arranging interesting sports games in the sports APP. Methods: Using the experimental method, interview method and mathematical statistics method, 37 children aged 3-6 years were selected through the motor development questionnaire, and online exercise intervention was carried out around the six themes of balance, coordination, sensitivity, flexibility, jumping and strength. There is a sports theme cycle every week, and the weekend is a parent-child sports game. The overall intervention lasts for 6 months, lasting from 15 to 20 minutes per day. Results: There were highly significant differences in children's exercise ability before and after the experiment (t= -24.859, P < 0.01); the sensitivity, flexibility and coordination were particularly improved, with highly significant differences (t= -25.147, P < 0.01); interviews found that through weekly parent-child exercise games, children and parents increased physical interaction and language communication compared with before intervention. Conclusion: Intelligent exercise online intervention can effectively improve the motor ability of children aged 3 to 6 years, especially the sensitivity, flexibility, and coordination ability. Meanwhile, regular parent-child exercise can improve communication between parents and children and improve the parent-child relationship.

Modeling gross motor developmental curves of extremely and very preterm infants using the AIMS home-video method

BackgroundMotor development is one of the first signals to identify whether an infant is developing well. For very preterm (VPT) infants without severe perinatal complications, little is known about their motor developmental curves. AimsExplore gross motor developmental curves from 3 until 18 months corrected age (CA) of VPT infants, and related factors. Explore whether separate profiles can be distinguished and compare these to profiles of Dutch term-born infants. Study designProspective cohort study with parents repeatedly recording their infant, using the Alberta Infant Motor Scale (AIMS) home-video method, from 3 to 18 months CA. SubjectsForty-two Dutch infants born ≤32.0 weeks gestational age and/or with a birthweight (BW) of <1500 g without severe perinatal complications. Outcome measuresGross motor development measured with the AIMS. ResultsIn total 208 assessments were analyzed, with 27 infants ≥five assessments, 12 with <four, and three with one assessment. Sigmoid-shaped gross motor curves show unidirectional growth and variability. No infant or parental factors significantly influenced motor development, although a trend was seen for the model where lower BW, five-minute Apgar score <7, and Dutch native-speaking parents were associated with slower motor development. Three motor developmental profiles of VPT infants were identified, early developers, gradual developers, and late bloomers, which until 12 months CA are comparable in shape and speed to profiles of Dutch term-born infants. ConclusionsVPT infants show great intra- and interindividual variability in gross motor development, with three motor profiles being distinguished. From 12 months CA onwards, VPT infants appear to develop at a slower pace. With some caution, classifying infants into motor developmental profiles may assist clinical decision-making.

Moyamoya disease in a pediatric case: A case report

Moyamoya disease is extremely rare. In children, it is one of the rare causes of ischemic stroke. We present a 4-year-old female patient diagnosed with Magnetic Resonance Imaging (MRI) and Magnetic Resonance Angiography (MRA). In the case with chronic lacunar infarct in the white matter on magnetic resonance imaging, a cigarette smoke image characterized by diffuse collateral vascular networks was observed in MRA imaging. Since it is rare, we think that MRI and MRA imaging is safe and contributes to the diagnosis of the disease in children with mental and motor development retardation.

Dandy-Walker Malformation

Dandy-Walker Malformation

Analysis of genomic copy number variants in a patient with congenital type Pelizaeus-Merzbacher disease

To explore the genotypic and phenotypic characteristics of a child with congenital Pelizaeus-Merzbacher disease. Clinical, imaging and genetic characteristics of the child were retrospectively analyzed. The patient manifested significantly reduced muscle tension, apparent tremor of eyeballs, and retardation of motor development after birth. Cranial MRI at 6-month-old showed no myelinization of brain white matter, though no pathogenic variant was detected by clinical exome sequencing. A copy number variation was found at chrX: 102 192 246-103 045 526. The duplication has spanned approximately 853 kb and was recorded in the Decipher database to be associated with Pelizaeus-Merzbacher disease. Quantitative PCR confirmed that the duplication has derived from his mother. Reduced muscle tension, nystagmus, poor motor development, and absence of myelinization of white matter should alert the diagnosis of congenital type Pelizaeus-Merzbacher disease. Both sequence variant and copy number variation should be searched upon genetic testing. A clear diagnosis is required for genetic counseling.

Rehabilitation of patients with motor development retardation using reflector gymnastics by the Vojta method

The study aimed to demonstrate the significance and effectiveness of the Vojta rehabilitation technique, which leads to activation of human motor performance and to the pronounced potentiation of numerous functions of the nervous system in children with a diagnosis of motor development retardation.

Vision Development Differences between Slow and Fast Motor Development in Typical Developing Toddlers: A Cross-Sectional Study.

Many studies have established a relationship between visual function and motor development in toddlers. This is the first report to study two-year-olds via an assessment of their visual and motor skills. The purpose of this study is to describe the possible changes that can occur between visual and motor systems in typical developing toddlers. A total of 116 toddlers were included in this observational, descriptive, and cross-sectional study. Their mean age was 29.57 ± 3.45 months. Motor development variables studied were dominant hand/foot; stationary, locomotion, object manipulation, grasping, visual motor integration percentiles; gross motor, fine motor, and total motor percentiles; and gross motor, fine motor, and total motor quotients. Visual development variables were assessed including visual acuity, refractive error, ocular alignment, motor fusion and suppression, ocular motility, and stereopsis. Our findings demonstrated that typical developing toddlers with slow gross motor development had higher exophoria and further near point of convergence values compared to toddlers with fast gross motor development (p < 0.05). No statistically significant differences were found in visual acuity and stereopsis between slow and fast gross motor development toddlers.

The Research of the Need for Occupational Therapy in the Infant`s Foster Home

The aim of the research was to examine the need for occupational therapy in the infant foster home. The study was conducted in December 2009 – March 2010 in Kaunas Child’s Development Clinic „Lopšelis“. Self-dependence and fine motor function evaluation were made according to DISC (Diagnostic Inventory for Screening Children). Sensory integration disorders were valuated by the questionnaire of evaluation of sensory integration filled in by the teachers (for children from birth to 2 years) which helped the teachers to evaluate the babies growing in the foster home. Evaluating fine motor skills we estimated that 22 children (57.9%) were of normal development, 13 children (34.2%) had development retardation and 3 children (7.9%) had development difficulties. Evaluating the self-dependence of the children growing in the infant foster home, we determined that 25 children (65.8%) were of normal development, 12 children (31.6%) had development retardation and 1 child (2.6%) had development difficulties. Both child‘s self-dependence and fine motor skills depend on the age (varies with the growth of a child). To assess the influence of the changes in living conditions on child’s development regardless of age, we created a new character – children’s part time (in percent) spent in infant foster homes. The results of the research revealed that the longer a child lives in a foster home, the more their self-dependence and fine motor skills weaken. The results of the questionnaire for assessment of sensory integration disorders were analyzed and total score of 9 areas was counted. It varied from 55 to 95 points, the average of the total score was 76.2 points. The correlation coefficient between sensory integration disorder (total score) and the time children spent in the infant foster home was r = 0.35, p = 0.08. Therefore, it can be stated with the 90 % reliability that the longer a child lived in a foster home, the more pronounced his / her sensory integration disorders were. Conclusions. 1. A large proportion of infants (20 (42.1%)) growing in the infant foster home have fine motor function development disorders: 13 children (34.2%) were stated to have fine motor development retardation, 3 children (7.9%) had development difficulties. 2. Infants growing in a foster home have disorders of the development of self-dependence skills. We found that 12 children (31.6%) had characteristic retardation of self-dependence skills development, and 1 child (2.6%) had development disorders. 3. Infants growing in the infant foster home have sensory integration disorders. The results of the research showed that 9 (35%) of the respondents had light sensory integration disorders, 10 (38%) respondents had medium sensory integration disorders and 1 (4%) respondent had pronounced sensory integration disorder.Keywords: occupational therapy, developmental disorders, foster homes.

Rearing condition may alter neonatal development of captive Bolivian squirrel monkeys (Saimiri boliviensis boliviensis).

Nursery rearing has well-known consequences for primate species. Relative to some other primate species, research has indicated a reduced impact of nursery rearing on squirrel monkeys, particularly in terms of rates, severity, and persistence of abnormal behavior. We administered the Primate Neonatal Neurobehavioral Assessment to 29 dam-reared and 13 nursery-reared squirrel monkeys (Saimiri boliviensis boliviensis) at 2 and 6weeks of age. Mixed-model ANOVAs comparing composite scores and individual assessment items across age, rearing status, and sex revealed a number of developmental differences. Dam-reared infants scored higher on all four composite measures compared to nursery-reared infants (p<.05) indicating that nursery-reared animals had slower motor development, were less active and attentive, and were more passive than their dam-reared counterparts. Consistent with infant rhesus macaques, nursery-reared squirrel monkeys showed an increased sensitivity to tactile stimulation (p<.05). Altogether, these results suggest a disruption of species-typical development when squirrel monkey infants are reared in a nursery setting, with activity, orientation, and state control areas most affected, though experimental research is needed to determine if this is a causal relationship. Contrary to previous behavioral research, there are likely developmental differences between dam-reared infant squirrel monkeys and those reared in a nursery setting.

Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children.

SCN1A gene mutations are associated with epilepsy and neurodevelopmental disorders. This study aimed to explore the genotype and phenotype spectrum of SCN1A gene related epilepsy. Epileptic patients who were treated in the Children's Hospital of Chongqing Medical University from January 2015 to July 2018 and identified as having SCN1A mutations by targeted next-generation sequencing were included. Clinical manifestations of all patients were analyzed retrospectively. A total of 24 patients with SCN1A mutations were identified. The age of epilepsy onset ranged from 2 months to 2 years and 9 months. Multiple seizure types were observed. A total of 13 (54.2%) patients had three or more types of seizures. Overall, 16 (66.7%) patients had status epilepticus, 11 (45.8%) patients had fever sensitivity, and nine (37.5%) patients had seizures after vaccination. Moreover, 15 (62.5%) patients showed varying degrees of cognitive and motor development retardation. In addition, two patients had mutations inherited from one of their parents and 22 (91.7%) patients had de novo mutations. The following SCN1A mutation types were identified: missense (16 patients, 66.7%), nonsense (four patients, 16.7%), splice site (one patient), frameshift (one patient), and large deletions (two patients). Overall, 23 of the patients received antiepileptic therapy, of which eight (33.3%) patients had no decrease in seizures and 11 (45.8%) patients had more than 50% decrease in seizure frequency. Three patients had poor response to antiepileptic drug therapy before attempting ketogenic diet, after which seizure frequency decreased by 50%. A total of 10 (41.7%) patients had used sodium channel blockers before accurate diagnosis, all of whom showed ineffective or even aggravated seizure response. SCN1A mutations are associated with a spectrum of seizure-related disorders, ranging from a relatively mild form of febrile seizures to a more severe epileptic encephalopathy known as Dravet syndrome. Early diagnosis of SCN1A mutation-associated epilepsy can aid in appropriate choice of antiepileptic drugs for treatment and reducing adverse sequelae.

The association of malaria morbidity with linear growth, hemoglobin, iron status, and development in young Malawian children: a prospective cohort study

BackgroundAlthough poor complementary feeding is associated with poor child growth, nutrition interventions only have modest impact on child growth, due to high burden of infections. We aimed to assess the association of malaria with linear growth, hemoglobin, iron status, and development in children aged 6–18 months in a setting of high malaria and undernutrition prevalence.MethodsProspective cohort study, conducted in Mangochi district, Malawi. We enrolled six-months-old infants and collected weekly data for ‘presumed’ malaria, diarrhea, and acute respiratory infections (ARI) until age 18 months. Change in length-for-age z-scores (LAZ), stunting, hemoglobin, iron status, and development were assessed at age 18 months. We used ordinary least squares regression for continuous outcomes and modified Poisson regression for categorical outcomes.ResultsOf the 2723 children enrolled, 2016 (74.0%) had complete measurements. The mean (standard deviation) incidences of ‘presumed’ malaria, diarrhea, and ARI, respectively were: 1.4 (2.0), 4.6 (10.1), and 8.3 (5.0) episodes/child year. Prevalence of stunting increased from 27.4 to 41.5% from 6 to 18 months. ‘Presumed’ malaria incidence was associated with higher risk of stunting (risk ratio [RR] = 1.04, 95% confidence interval [CI] = 1.01 to 1.07, p = 0.023), anemia (RR = 1.02, 95%CI = 1.00 to 1.04, p = 0.014) and better socio-emotional scores (B = − 0.21, 95%CI = − 0.39 to − 0.03, p = 0.041), but not with change in LAZ, haemoglobin, iron status or other developmental outcomes. Diarrhea incidence was associated with change in LAZ (B = − 0.02; 95% CI = − 0.03 to − 0.01; p = 0.009), stunting (RR = 1.02; 95% CI = 1.01 to 1.03; p = 0.005), and slower motor development. ARI incidence was not associated with any outcome except for poorer socio-emotional scores.ConclusionIn this population of young children living in a malaria-endemic setting, with active surveillance and treatment, ‘presumed’ malaria is not associated with change in LAZ, hemoglobin, or iron status, but could be associated with stunting and anemia. Diarrhea was more consistently associated with growth than was malaria or ARI. The findings may be different in contexts where active malaria surveillance and treatment is not provided.Trial registrationNCT00945698 (July 24, 2009) and NCT01239693 (November 11, 2010).

Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report

Background: Vitamin D is a vital hormone in preserving calcium and phosphorus homeostasis in the body and maintaining normal growth and mineralization of bones. Case Presentation: We identified a patient with vitamin D dependent rickets type 1A (VDDR1A). This patient had rachitic skeletal manifestations, macrocephaly, retarded motor development, hypocalcemia, hypophosphatemia, markedly elevated alkaline phosphatase, and secondary hyperparathyroidism associated with normal 25 hydroxyvitamin D [25(OH)D] and low 1,25-dihydroxyvitamin D [1,25(OH)2D]. These biochemical abnormalities are consistent with the diagnosis of VDDR1A. Molecular analysis of CYP27B1 gene revealed novel homozygous mutation “Gly125Arg”. Unaffected parents were heterozygous carriers. Conclusion: It is highly suggestive that “Gly125Arg” is the molecular defect causing this disease in our patient. Gly125Arg is likely to be a pathogenic mutation that leads to VDDR1A.

Application of the Peabody developmental motor scale in the assessment of neurodevelopmental disorders in premature infants

With the progress and development of perinatal medicine, the survival rate of preterm infant has been increased significantly.Early complications of premature infants could be effectively controlled, but some surviving premature infants left cerebral palsy, motor development retardation, visual impairment and other neurodevelopmental disorders, which seriously affected the quality of life.As a part of the neonatal physical examination, Peabody developmental motor scale plays an increasingly important role in understanding the early intelligence development, behavioral capacity, and neurological development of newborns.This paper reviewed the application of the Peabody developmental motor scale in the assessment of neurodevelopmental disorders in premature infants. Key words: Peabody developmental motor scale; Premature infants; Validity

Analysis of clinical features and the results of mass spectrometry with glutaric acidemia type I

Objective For clinically understanding of glutaric acidemia type Ⅰ (GA-Ⅰ), the relationship of the clinical manifestations and the serum levels of free carnitine (C0), glutarylcarnitine (C5DC), and capryloylcarnitine (C8) as well as the urinary levels of glutaric acid and mevalonolactone of patients with GA-Ⅰ were studied. Methods From December 2007 to April 2016, a total of 62 patients with GA-Ⅰ (GA-Ⅰ group) and 62 healthy children (control group) were included. Tandem mass spectrometry was used to measure the blood levels of C0, C5DC, and C8, while, gas chromatography-mass spectrometry was used to measure the urine levels of glutaric acid and mevalonolactone. Results Total 62 cases, 36 males and 26 females, median age 1.2 years (range from 27 days to 9.3 years) were enrolled. Clinical features included macrocephaly, dyskinesia, seizures, growth and mental retardation, abnormal muscular tension, as well as feeding difficulties. The median levels of C5DC, C5DC/C8, glutaric acid, mevalonolactone were 0.90 μmol/L, 24.25, 936.30 mmol/mol creatinine, and 141.5 mmol/mol creatinine respectively, which were higher than those of the control group (all P<0.01). While the median level of C0 was between the reference value, and the median level of C8 was lower than the control group (0.04 vs 0.10 μmol/L). Cranial magnetic resonance image (MRI) had been carried out in 34 patients. Multiple and symmetrical abnormal signal in white matter and basal ganglia, widening of the sylvian fissure, expansion of cerebro-spinal fluid spaces anterior to the temporal lobes were cardinal signs of GA-Ⅰ. Conclusions Patients with GA-Ⅰ present with complex and variable clinical features, mainly including abnormal increase of head circumference, retarded motor and language development, repeated convulsions and characteristic abnormalities in brain MRI. Significant increase in the blood levels of C5DC and C5DC/C8 and in urine level of glutaricacid and mevalonolactonemay are specific to the diagnosis of GA-Ⅰ. For mild cases, repeated tests and genomic mutation analysis are necessary. (Chin J Endocrinol Metab, 2017, 33: 730-734) Key words: Glutaric acidemia Ⅰ; Glutarylcarnitine; Glutaric acid; Tandem mass spectrometry; Gas chromatography-mass spectrometry

Long-term outcomes of extremely preterm infants and extremely low birth weight infants with low one-minute Apgar score

Objective To investigate the relationships between low one-minute Apgar score and the prognosis of extremely preterm infants (EPI) and extremely low birth weight infants (ELBWI). Methods Altogether 50 EPI and ELBWI who had a low one-minute Apgar score (≤7) and were admitted to the Neonatal Intensive Care Unit (NICU) of Peking University Third Hospital from January 1,2010 to December 31, 2015 were enrolled in this study. All of them were divided into two groups according to their Apgar score: mild group (4-7) and severe group (0-3). Medical records of the subjects were reviewed and an at least 18 months follow up study was conducted. Conditions of all subjects during perinatal period and hospitalization were summarized. Outcomes and follow-up results were compared between the two groups by using Fisher exact test. Results (1) General information: Fifty infants were involved, among which 37 had a mild low Apgar score and 13 had a severe low Apgar score. The mean gestational age was (27.7±2.1) weeks and the mean birth weight was (884.4±174.3) grams. (2) Main complications (some infants with more than one complication): There were 42 cases of neonatal respiratory distress syndrome, 12 cases of pulmonary hemorrhage, 21 cases of bronchopulmonary dysplasia, 31 cases of patent ductus arteriosus, 36 cases of intraventricular hemorrhage, 22 cases of white matter damage and six cases of retinopathy of prematurity. (3) Outcomes: The survival rate was 48% (24/50) and the mortality rate was 52% (26/50). Among the 26 infants, five died despite treatment and 21 died within 72 hours after their parents giving up treatment. There were no significant differences in the survival rates, mortality rates and rates of abandon treatment between the two groups [43% (16/37) vs 8/13; 11% (4/37) vs 1/13; 46% (17/37) vs 4/13; Fisher exact test, all P>0.05]. (4) Follow-up results: Twenty-one infants were followed-up to at least 18 months of age, among which four were normal, 10 had growth retardation and recurrent respiratory tract infection and seven had motor development retardation. The incidence of motor development retardation in severe group was higher than that in mild group, and the difference between them was statistically significant (5/8 vs 2/13, Fisher exact test, P=0.046). Conclusions EPI or ELBWI with a low one-minute Apgar score have many nosocomial complications, resulting in high mortality and high incidence of motor development retardation. Key words: Infant, extremely low birth weight; Apgar score; Survival rate; Treatment outcome

The fidgety general movement assessment can predict motor development outcomes for pre-term twins or multiplets

Objective To study the predictive validity of fidgety general movement assessment in pre-term twins and multiplets for motor development outcomes. Methods A total of 53 pre-term twins or multiplets delivered between July 2011 and February 2016 participated in this study. They were assessed using a general movements (GM) assessment and participated in the follow-up program until one year old. The motor development outcomes of the infants at one year old were determined according to clinical diagnoses and the Peabody developmental motor scale number two (PDMS-2) evaluation. The predictive validity of fidgety general movement assessment for motor development outcomes was calculated against the standard motor development of infants at one year old. Results There were 53 twins or multiplets who accepted the GM assessment of fidgety movement period. Of these, 43 were assessed as normal (NF) and ten (19%) as lacking a normal level of fidgety movement (F-). All 53 cases were followed-up for the motor development outcome. Forty-three cases (81.1%) were assessed as normal at one year old, while ten (18.9%) were assessed as abnormal. All ten had cerebral palsy, and no motor development retardation was found. The predictive value of F- for cerebral palsy was 90.0% in terms of sensitivity, 97.7% in terms of specificity, 90.0% in positive predictive value, and 97.7% in terms of negative predictive value. Conclusions Among pre-term twins or multiplets, the fidgety general movement assessment can be a useful early indicator of motor development difficulties. Key words: General movements assessment; Fidgeting; Twins; Multiple births; Pre-term infants; Cerebral palsy

Dandy Walker and Extreme Macrocephaly Caused by Enormous Occipital Encephalocele

Abstract Introduction. Dandy-Walker syndrome is a congenital brain malformation involving cerebellum with partial and complete vermian agenesis, enlargement of the fourth ventricle and surrounding fluid spaces, cyst formation in posterior cranial fosse pushing tentorium upward [1,2]. Hydrocephalus or an increase in the pressure of the fluid spaces may also be present or other malformation as corpus calosum hypoplasia or agenesia, occipital encephalocele, malformation of the heart, face, limbs fingers and toes [3-5]. The symptoms often occur in early infancy and include slow motor development and progressive enlargement of the skull. The diagnostic is done by ultrasound, CT and MRI [6-11]. The treatment of this syndrome may be complex and sometimes includes various experts such as pediatrician, pediatric neurosurgeon, physiatrist, psychologist, sociologist or others. The treatment consists of treating the associated problems such as hydrocephaly [12-15]. Prognosis of Dandy-Walker syndrome is variable and the morbidity and mortality depends on severity of the syndrome and associated malformations [16]. Aim. The aim of this paper was to demonstrate how severe spontaneous evolution of Dandy-Walker syndrome may be expressed and the problems and dilemmas which may appear related to its treatment. Case report. A six-year-old boy was referred to the neurosurgeon because of the excessive growth of the skull in anteroposterior axis caused by a wide base occipital encephalocele. Although the psychological development was near the low limit of the IQ, the enormous head had not allowed verticalization of the child and further progress of his psychomotor development. The head was so heavy that could not be supported by the child’s neck. Surgical procedure. We performed a cranial skull reduction with primary cranioplasty assisted by a plastic surgeon and Pudentz shunt procedure. Result. The follow-up period lasted two years. The child started to walk, hypotonia and Babinski signs disappeared, communication and his IQ improved. The esthetic results are quite acceptable allowing him better development. Conclusion. The early recognition of anomalies such as Dandy-Walker syndrome with occipital encephalocele using ultrasound may suggest interruption of the pregnancy on time [6-9]. However, the right diagnostic procedure for detecting deformities of the newborn and infant’s head at birth is MRI, and the adequate surgical treatment can prevent abnormal and excessive growth of the skull and disorders in the psychomotor development during child’s growth. A multidisciplinary approach may prevent new disabled individuals in the society.

Oral language deficits in familial dyslexia: A meta-analysis and review.

This article reviews 95 publications (based on 21 independent samples) that have examined children at family risk of reading disorders. We report that children at family risk of dyslexia experience delayed language development as infants and toddlers. In the preschool period, they have significant difficulties in phonological processes as well as with broader language skills and in acquiring the foundations of decoding skill (letter knowledge, phonological awareness and rapid automatized naming [RAN]). Findings are mixed with regard to auditory and visual perception: they do not appear subject to slow motor development, but lack of control for comorbidities confounds interpretation. Longitudinal studies of outcomes show that children at family risk who go on to fulfil criteria for dyslexia have more severe impairments in preschool language than those who are defined as normal readers, but the latter group do less well than controls. Similarly at school age, family risk of dyslexia is associated with significantly poor phonological awareness and literacy skills. Although there is no strong evidence that children at family risk are brought up in an environment that differs significantly from that of controls, their parents tend to have lower educational levels and read less frequently to themselves. Together, the findings suggest that a phonological processing deficit can be conceptualized as an endophenotype of dyslexia that increases the continuous risk of reading difficulties; in turn its impact may be moderated by protective factors.

Prenatal diagnosis of periventricular venous infarction in utero: a case with hereditary protein C deficiency

Abstract A 36-year-old primigravida woman with a normal pregnancy course presented with fetal unilateral focal ventriculomegaly on routine ultrasonography performed at 28 weeks of gestation. Periventricular venous infarction (PVI) in utero was diagnosed with fetal magnetic resonance imaging (MRI). The neonate was born at term uneventfully and in utero PVI was confirmed by MRI after birth. The neonate was diagnosed with hereditary protein C deficiency after coagulation laboratory studies. At 10 months of age, the infant presented with mild retardation of motor development. This is the first report about prenatally diagnosed PVI in utero by fetal MRI. When focal, unilateral enlargement of the ventricles is detected in utero by prenatal ultrasonography, it is important to consider PVI and perform confirmatory fetal MRI.