Long-term effects of neonatal hypoglycemia on brain growth and psychomotor development in small-for-gestational-age preterm infants.

OBJECTIVE: To investigate the effects of neonatal hypoglycemia on physical growth and neurocognitive function.Study design: A systematic detection of hypoglycemia (<2.6 mmol/L or 47 mg/dL) was carried out in 85 small-for-gestational-age preterm neonates. Prospective serial evaluations of physical growth and psychomotor development were performed. Retrospectively, infants were grouped according to their glycemic status. RESULTS: The incidence of hypoglycemia was 72.9%. Infants with repeated episodes of hypoglycemia had significantly reduced head circumferences and lower scores in specific psychometric tests at 3.5 years of age. Hypoglycemia also caused reduced head circumferences at 18 months and lower psychometric scores at 5 years of age. Infants with moderate recurrent hypoglycemia had lower scores at 3.5 and 5 years of age compared with the group of infants who had 1 single severe hypoglycemic episode. CONCLUSION: Recurrent episodes of hypoglycemia were strongly correlated with persistent neurodevelopmental and physical growth deficits until 5 years of age. Recurrent hypoglycemia also was a more predictable factor for long-term effects than the severity of a single hypoglycemic episode. Therefore repetitive blood glucose monitoring and rapid treatment even for mild hypoglycemia are recommended for small-for-gestational-age infants in the neonatal period.

Psychomotor Development of 18-Months Children With Orofacial Clefts

Objective - To describe the global and language development of children with cleft palate or cleft lip and palate at the age of 18 months, and to evaluate whether the type of cleft has an impact on psychomotor development. Study Design - Prospective cohort study. Settings - Tertiary care hospital Patients - All children born between December 2002 and November 2009 with an orofacial cleft, operated and seen at the developmental unit (UD) of the same hospital at the age of 18 months. Outcome Measures - Developmental quotients of the Griffiths Mental Development Scale and the French Communicative Development Inventory (IFDC) were used to assess the overall and language development of the children. Statistics- The population characteristics were described with means for continuous variables, and frequencies for binary or categorical variables. Chi-squared and regression analysis were used to analyse the results. Results - 69 children with clefts were examined at the age of 18 months with the IFDC and the Griffith test. The results showed that there was no significant difference in the test results of language development and global psychomotor development between the children with different types of clefts, and all were within the normal range. Conclusion - Psychomotor development is not affected by orofacial clefts, and there is no difference between children with cleft palate or cleft lip and palate.

Long-term follow-up in patients with Lennox-Gastaut syndrome. Epileptological aspects, psychomotor development and social adaptation

In 1989/90 a follow-up was made possible on 72 of 78 patients who have been treated for the supposed or confirmed diagnosis of a Lennox-Gastaut-Syndrome at the university children hospital of Berne between 1964 and 1978. Nine patients were excluded of this study because the diagnosis was proved wrong retrospectively, leaving 63 cases. Of these, eleven patients (17.5%) have died. The remaining 52 (82.5%) were evaluated regarding their epilepsy, psychomotor development and social adaptation. The follow-up was good for 14.3%, intermediate for 23.8% and poor for 44.4%. Bad prognostic factors were found to be: first manifestation of epilepsy during the first year of life, occurrence of infantile spasms or hypsarrhythmia in the EEG and pathological neurological signs at the beginning of the disease. In the course of illness a change of seizure phenomenology was observed. The infantile spasms were seen only during the first three years of epilepsy. After the second year of disease psychomotor seizures became more and more frequent. Atypical absences, already seen at the beginning, were the most frequent form of seizure from the third year of epilepsy until the end of our observations. During the course of disease the frequency of generalized tonic and tonic-clonic seizures decreased little.

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of KS. The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail hypoplasia, and prominent finger pads. Her mother had eyebrows with dispersed lateral half, long and upward slanting palpebral fissures, retrognathia, abnormal and posteriorly rotated ears, prominent finger pads, brachydactyly of feet, learning difficulties, and psychomotor development delay. DNA sequencing revealed a novel missense mutation in the MLL2 gene in both the proposita and her mother. The mutation (p.R5432Q) was found in the exon 51, within the SET domain of the gene, which confers methyltransferase activity on the protein. Therefore, the epigenetic and transcriptional regulatory properties of this protein may be altered and this suggests that the mutation is the cause of phenotype observed in both the patient and her mother. The clinical signs and the molecular evidence in this family further support the notion that KS is an autosomal dominant condition with variable expressivity. To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome. (C) 2012 Wiley Periodicals, Inc.

Relatório de estágio em psicomotricidade e intervenção precoce realizado no Hospital Beatriz Ângelo e no Agrupamento Vertical Almeida Garrett

No âmbito do ramo de aprofundamento de competências profissionais, inserido no Mestrado em Reabilitação Psicomotora, surge a possibilidade de elaborar o presente relatório com base no estágio curricular realizado no Hospital Beatriz Ângelo e no Agrupamento Vertical Almeida Garrett. Este estágio incidiu na área da psicomotricidade e da intervenção precoce e possibilitou desenvolver um trabalho com crianças e respetivas famílias. As atividades de estágio foram desenvolvidas com 11 crianças entre os 18 meses e os 10 anos de idade que apresentavam diversas problemáticas e que, por influência da sua condição ou do meio envolvente, as suas aprendizagens e comportamento encontram-se comprometidos. Todavia, foram escolhidos dois casos para uma análise mais detalhada das suas características, desenvolvimento global e contexto, seguindo de uma sequência lógica de processos da prática psicomotora - observação, avaliação, elaboração de planos de intervenção/sessão e intervenção.

Effect of iodine prophylaxis during pregnancy on neurocognitive development of children during the first two years of life.

CONTEXT The association between thyroid function during pregnancy and the later mental and psychomotor development of the child is supported by numerous experimental, clinical, and epidemiological studies. OBJECTIVE The aim of the study was to evaluate the psychological development of infants aged 3 to 18 months whose mothers had received 300 microg of potassium iodide during the first trimester of their pregnancy and compare with infants whose mothers had received no iodine supplements. DESIGN AND STUDY SUBJECTS: The study included 133 women who had received 300 microg of potassium iodine and 61 women who had received no iodine supplements. MAIN OUTCOME MEASURES The neuropsychological status of the children was evaluated with the Bayley Scales of Infant Development, and measurements were made of TSH, free T(3), free T(4), and urinary iodine. RESULTS Those children whose mothers had received an iodine supplement of 300 microg had a more favorable psychometric assessment than those of the other group of mothers. They had higher scores on the Psychomotor Development Index (P = 0.02) and the Behavior Rating Scale. CONCLUSIONS Dietary iodine supplements not only have no harmful effect on the neurodevelopment of the children, they may even be beneficial. Given the possible presence of confounding variables not controlled for in this study, these findings should be considered as preliminary.

RAX and anophthalmia in humans: Evidence of brain anomalies.

PURPOSE: To report the clinical and genetic study of two families of Egyptian origin with clinical anophthalmia. To further determine the role of the retina and anterior neural fold homeobox gene (RAX) in anophthalmia and associated cerebral malformations. METHODS: Three patients with clinical anophthalmia and first-degree relatives from two consanguineous families of Egyptian origin underwent full ophthalmologic, general and neurologic examination, and blood tests. Cerebral magnetic resonance imaging (MRI) was performed in the index cases of both families. Genomic DNA was prepared from venous leukocytes, and direct sequencing of all the exons and intron-exon junctions of RAX was performed after PCR amplification. RESULTS: Clinical bilateral anophthalmia was observed in all three patients. General and neurologic examinations were normal; obesity and delay in psychomotor development were observed in the isolated case. Orbital MRI showed a hypoplastic orbit with present but rudimentary extraocular muscles and normal lacrimal glands. Cerebral MRI showed agenesis of the optic nerves, optic tracts, and optic chiasma. In the index case of family A, the absence of the frontal and sphenoidal sinuses was also noted. In the index case of family B, only the sphenoidal sinus was absent, and there was significant cortical atrophy. The three patients carried a novel homozygous c.543+3A>G mutation (IVS2+3A>G) in RAX. Parents were healthy heterozygous carriers. No mutations were detected in orthodenticle homeobox 2 (OTX2), ventral anterior homeobox 1 (VAX1), or sex determining region Y-box 2 (SOX2). CONCLUSIONS: This is the first report of a homozygous splicing RAX mutation associated with autosomal recessive bilateral anophthalmia. To our knowledge, only two isolated cases of anophthalmia, three null and one missense case affecting nuclear localization or the DNA-binding homeodomain, have been found to be caused by compound heterozygote RAX mutations. A novel missense RAX mutation was identified in three patients with bilateral anophthalmia and a distinct systemic and neurologic phenotype. The mutation potentially affects splicing of the last exon and is thought to result in a protein that has an aberrant homeodomain and no paired-tail domain. Functional consequences of this change still need to be characterized.

Surgical treatment of temporoparietooccipital cortical dysplasia in infants: report of two cases.

PURPOSE: Extensive multilobar cortical dysplasia in infants commonly is first seen with catastrophic epilepsy and poses a therapeutic challenge with respect to control of epilepsy, brain development, and psychosocial outcome. Experience with surgical treatment of these lesions is limited, often not very encouraging, and holds a higher operative risk when compared with that in older children and adults. METHODS: Two infants were evaluated for surgical control of catastrophic epilepsy present since birth, along with a significant psychomotor developmental delay. Magnetic resonance imaging showed multilobar cortical dysplasia (temporoparietooccipital) with a good electroclinical correlation. They were treated with a temporal lobectomy and posterior (parietooccipital) disconnection. RESULTS: Both infants had excellent postoperative recovery and at follow-up (1.5 and 3.5 years) evaluation had total control of seizures with a definite "catch up" in their development, both motor and cognitive. No long-term complications have been detected to date. CONCLUSIONS: The incorporation of disconnective techniques in the surgery for extensive multilobar cortical dysplasia in infants has made it possible to achieve excellent seizure results by maximizing the extent of surgical treatment to include the entire epileptogenic zone. These techniques decrease perioperative morbidity, and we believe would decrease the potential for the development of long-term complications associated with large brain excisions.

Failure to thrive in a girl born into a family affected by familial dysalbuminemic hyperthyroxinemia

Autosomal dominant familial dysalbuminemic hyperthyroxinemia (FDH)is characterized by modified human serum albumin (HSA) inducing asubstantially higher affinity for thyroxine (T4). Histidin or prolinsubstitution on residue R218 produces localized conformationalchanges of HSA creating additional room for T4 binding, leadingto 14-20 fold normal total T4 (TT4) levels. Affected individuals areconsidered euthyroid. Our patient is an 18 months-old swiss girl bornto a mother known for the rare R218P mutation in the HSA gene.She presented with severe failure to thrive (height -2.92 SD, weight-3.6 SD), habitual hip dislocation without anatomical anomaly, latefontanelle closing and protruding ears. Psychomotor development isslightly retarded. Thyroid function testing confirmed extremely high TT4(1446.0 nmol/l) levels, which are similar to her brother's values (1534.4nmol/l and 1757.6 nmol/l respectively). Free T4 seems slightly elevated(26 pmol/l), probably due to methodological reasons. TSH (0.92 mU/l),free T3 (4.4 pmol/l) and thyroxin binding globulin (32 mg/l) are withinthe normal range. Her two half-brothers, affected by the samemutation, are now 18.7 (P1) and 16.6 (P2) years old and wereoriginally described by S. Pannain et al. in 2000. Both werecharacterized by growth retardation (-2.1 and -2.2 SD) before the ageof 4 years. P1 has reached a normal adult height (-0.4 SD) and P2has caught up to normal growth (-0.68 SD) with moderate bonematuration delay. Pubertal development and anterior pituitary functionare adequate. Primary growth and developmental retardation in thefirst years of life with adequate catch-up seem to be a distinctcharacteristic in FDH with R218P mutation. Hip dislocation is typicallyseen in other situations associated to thyroid disorders, like Downsyndrome. These findings might be explained by altered early thyroidhormone utilization in children with FDH.

Multisystem Developmental Disorder in Children from 2 to 6 Years Old : A Three Years Follow-Up Study

This research studied children who had been diagnosed with Multisystem Developmental Disorder (MSDD) (NC, 2002) under the Diagnostic Classifications of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC: 0 - 3). They all showed, to a varying degree, difficulties in relating to others, play, affective interaction and severe delay in developing communication skills. Some studies have observed continuity in the diagnosis of autism during the first years of life. The objective of this study is to analyse the development of infants with MSDD whose diagnosis of autism was not confirmed. We also attempted to verify any possible psychomotor developmental differences based on, or related to, the severity and typology (B and C) of the MSDD. To enable us to do this we carried out a 3-year follow-up during which we assessed the infants (n = 15) and their parents. They are 2 - 4 years old. Results showed that type B children did present a greater impairment of psychomotor development in assessment tests. However, we did not observe any correlation between the degree of severity of the initial symptoms and later diagnoses. Conclusion: although our sample is small, we can conclude that there isn’t a clear evolution in the diagnosis, but we have found significant differences in the symptomatology between the type B and C

Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features

A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.

O impacto do Método Mãe Canguru no processo de aprendizagem de prematuros de baixo peso: Revisão da literatura

Technology advances and scientific studies in Neonatal Intensive Care Units (NICU) have contributed significantly to reduce mortality and morbidity of at-risk newborns (NB). However, they are more likely to present neurological and/or developmental psychomotor delay with neurological and sensory alterations. Therefore, proposals for neonatal intervention were developed with the aim of protecting the baby and offering appropriate incentives to minimize the effects of hospital intervention. To this end, programs of protective measures such as the Kangaroo Mother Care (KMC) were developed. Given the relevance of the issue described, this systematic review critically appraises articles from the national and international literature, published in recent years (from 2000 to 2011), that describe whether the KMC can be a protective factor for the development of writing in premature infants. The textual search was conducted using the Virtual Health Library (VHL), a website that covers publications worldwide, allowing access to articles from health science, including LILACS, IBECS, MEDLINE, Cochrane Library and SciELO, as database. The findings revealed that infants who participated in the KMC program showed improvements in their development and that factors such as low-birth-weight prematurity and learning disorders have close relationship with the onset of motor impairments and changes in psychomotor development. The findings showed no articles describing the KMC as a protective factor for the incidence of dysgraphia. Thus, we emphasize the importance of conducting further studies on these topics.

Elementos psicomotores e fatores sociais relacionados ao desenvolvimento motor e dificuldades de aprendizagem em crianças ingressantes no ensino fundamental

In humans, psychic and motor skills are interdependent, and therefore, cannot fail to take into account the influence of a good psychomotor development in the prevention of learning difficulties. Another factor that interferes with the learning process is the social. Family problems, socioeconomic status of the child, among others, may be associated with learning difficulties and, consequently, the student's performance. Therefore, the aim of this study was to investigate through the elements of psychomotor, if a delay in neuropsychomotor development may be related to the presence of learning problems in children entering elementary school. Also, determine whether there were differences regarding the presence or absence of these difficulties in students from middle and low social class and have family problems or not. For this, we analyzed two classes of 49 students from 1 year of elementary education at a public school in the city of Bauru/SP, aged between 6 and 7 years. These students were tested for the ENE proposed by Lefèvre (1976) to assess the maturity of the nervous system. A pre-designed questionnaire was answered by the teachers of classes to know students' academic performance, learning difficulties presented by them, social status and the presence of family problems. All students participating in the survey had the term sheet signed by the parents, allowing participation in the study. To reach the results, we applied the Anova and Tukey test for comparison analysis of mean age in the performance of ENE. To investigate the existence of a relationship between performance in the ENE and learning difficulties, we used the calculation of Pearson correlation. To analyze the difference in average scores of learning disabilities in students from different social classes and among those who had family problems or not, comparative graphs were used with the averages obtained from the questionnaire answered by the teachers for each learning...

Síndrome de Leigh : descrição de um caso clínico e revisão teórica

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014