Early-onset epileptic encephalopathy caused by the UBA5 gene mutation: a case report and literature review / 中华实用儿科临床杂志

Objective:To explore the clinical and genetic characteristics of a case of early-onset epileptic encephalopathy caused by the UBA5 gene mutation and to review relevant literatures. Methods:The clinical characte-ristics and genetic data of a child with the UBA5 gene mutation in the Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University in June 2020 were retrospectively analyzed.Clinical characteristics and gene variation characteristics of the disease were reviewed in the domestic and foreign databases. Results:(1) The female patient presented infantile spasms at the age of 4 months.Electroencephalogram(EEG) suggested hypsarrhythmia and she was not responsive to a variety of anti-epileptic drugs.Besides, the patient showed severe cognitive and motor development delay, hypotonia, and microcephaly.The results of whole exome sequencing showed that the compound heterozygous mutation of UBA5 gene: exon 3 c. 214C>T (p.R72C) and exon 9 c. 844_c.845 insA (p.Y282Xfs*1), her father carries c. 214C>T mutation and her mother carries c. 844_c.845 INSA mutation.(2) To December 2020, a total of 15 cases of early-onset epileptic encephalopathy caused by the UBA5 gene mutation have been reported abroad.The main clinical manifestations were uncontrollable spasms, abnormal EEG findings, hypotonia, severe cognitive and movement disorders, microcephaly, and brain atrophy.A total of 11 mutation sites of the UBA5 gene were found, all belonging to the autosomal recessive inheritance, of which c. 1111G>A was the most common. Conclusions:The UBA5 gene mutation can lead to early-onset epileptic encephalopathy, which belongs to the autosomal recessive inheritance.It is featured by the early onset, uncontrollable seizures and poor long-term prognosis.

Study on impact of protein energy malnutrition on development in children

Background: Majority of the children in India who live below the poverty line in an environment of deprivation and starvation have physical and developmental retardation. The Objective of this study to study the impact and comparison of protein energy malnutrition on the development with normal children.Methods: This was a hospital based cross sectional study in which total 128 cases of protein energy malnutrition and 30 normal children were enrolled from nutritional rehabilitation center and in patients wards. The study population comprised of children less than 5 years of age, having weight for height/length ?3 SD, with visible wasting, or bipedal oedema, with mid arm circumference <11.5 cm were assessed for their development in all four domains using Denver II developmental Screening Test (DDST-II).Results: The gross motor milestones are affected in 62.5% with grade4 PEM & 42.85% with grade 3, the fine motor component is affected more in grade 4 with other domains less affected, no significant relation of language delay with PEM was observed in this study, 40% of children with grade 4 PEM shows delay in social domain while 18.18% of the patients with grade 3 PEM show delay in social domain. No patients with grade 1 or grade 2 PEM showed delay in social domain. All four domains are affected in PEM with a maximum effect in gross motor, but the difference does not seem to be significant as the p value is 0.3 i.e.' >0.05 which is insignificant.Conclusions: My study on the effect of protein energy malnutrition on development proves that there in increasing delay in all the domains of development with increasing grade of malnutrition. Early detection of malnutrition in community can cause early intervention and increase the productivity of nation.

Retraso del desarrollo del lenguaje en niños de 24 meses en un centro de salud en la Ciudad de Buenos Aires / Language development delay in 24-month-old children at a health care center of the City of Buenos Aires

Introducción. El retraso del desarrollo del lenguaje representa un desafío frecuente para pediatras y otros profesionales. El objetivo principal fue establecer su prevalencia en niñas y niños usuarios de un centro de salud. Población y métodos. Se evaluó el vocabulario expresivo de niñas y niños de 24 meses en un centro de salud utilizando el Inventario de Desarrollo de Habilidades Comunicativas MacArthur-Bates, versión breve (adaptación argentina). Se investigó la asociación entre el retraso del lenguaje y las características demográficas, socioeconómicas, conductuales/emocionales y de estrés parental. En aquellos con retraso expresivo, se evaluó el vocabulario receptivo y se investigaron posibles causas subyacentes (retraso cognitivo no verbal, trastornos del espectro autista, patología del oído medio e hipoacusia). Resultados. Se observó un retraso del desarrollo del lenguaje en 16 de 138 participantes (11,6%; intervalo de confianza -IC- 95%: 6,2-17%), asociado significativamente con antecedentes familiares de retraso del lenguaje, estrés parental y comportamiento problemático. El compromiso del vocabulario receptivo se identificó en 13 de 16 casos con retraso del desarrollo del lenguaje, y 7 presentaron sospecha de trastorno del espectro autista, de retraso global del desarrollo o ambas. Se observó la patología del oído medio en 5 de 9 estudiados. Los 9 participantes a los que se realizó una audiometría no presentaron resultados patológicos de acuerdo con los criterios adoptados en el presente trabajo. Conclusiones. El retraso del desarrollo del lenguaje representa un problema prevalente en nuestra población y se asoció principalmente con problemas de comportamiento y antecedentes familiares de retraso del lenguaje.

Introduction. Language development delay is a frequent challenge for pediatricians and other health care providers. The main objective of this study was to establish its prevalence among children attending a health care center. Population and methods. The expressive vocabulary of 24-month-old children attending a health care center was assessed using the Spanish-language MacArthur-Bates Communicative Development Inventories, short form (Argentine version). The association between language delay and demographic, socioeconomic, behavioral/emotional, and parental stress characteristics was analyzed. In children with expressive language delay, receptive vocabulary was assessed and possible underlying causes were studied (non-verbal cognitive delay, autistic spectrum disorders, middle ear pathology, and hearing impairment). Results. Language development delay was observed in 16 out of 138 participants (11.6%; 95% confidence interval: 6.2-17%), significantly associated with a family history of language delay, parental stress, and problem behavior. Receptive vocabulary compromise was identified in 13 out of 16 children with language development delay, and 7 were suspected of autistic spectrum disorder, overall developmental delay, or both. A middle ear pathology was observed in 5 out of 9 studied children. The 9 participants who had an audiometry did not have pathological results based on this study's criteria. Conclusions. Language development delay is a prevalent condition in our population and has been mainly associated with behavioral problems and a family history of language delay.

Study of copy number variations in children with unexplained mental retardation/brain development delay / 中华实用儿科临床杂志

Objective By using array-based single nucleotide polymorphisms comparative genomic hybridization (SNP-aCGH) to detect and fine mapping copy number variations (CNVs) in children with unexplained mental retardation/brain development delay(MR/BD),then the CNVs were analyzed to determine diagnosis and offer genetic counseling,finally to discuss the application of SNP-aCGH in genetic diagnosis of MR/BD with unknown causes.Methods Ninety-two children with unexplained MR/BD were recruited.SNP-aCGH was used to get CNVs from the whole genome-wide,and the correlation of CNVs and phenotype was analyzed to definit disease genes or pathogenic fragment.Statistics was performed to analyze the common phenotype between positive cases (case with CNVs) and negative cases.Results (1) The CNVs were detected in 10 cases with a detection rate of 10.86％,from which 8 cases showed subtelomeric aberration,5 cases without subtelomeric aberration,and the rate was 8.70％,5.40％,respectively.The CNVs related to MR/BD involved 10 different subtelomeric regions (9p,21q,3p,2p,15q,4p,12p,22q,16p,17p),and 7 different regions without subtelomeric (1p,4q,2p,14q,15q,12q,22q).The deletions involved 11 zones (size:1.05-8.80 Mb),and duplications referred to 8 zones (size:1.33-31.25 Mb).(2) One case was diagnosed as 9p duplication syndrome,for candidate genes:DOCK8,VLDLR.A case was detected with a gene fracture (CRBN).One case was diagnosed as Coffin-Sirrs syndrome combined with a deletion of 15q26.3-qter,for candidate genes:SOX11 and LINS1,respectively.One case referred to 12p13.3 deletion syndrome,for candidate genes:ELKS,ERC1.One case referred to 22q13.2-qter deletion,for candidate genes:SHANK3.Two cases were diagnosed as ATR-16 syndrome with 17p13.3 deletion syndrome,their candidate genes:HBA1,HBA2,SOX8 for the former,YWHAE,LIS1 for the latter.(3)There were statistically significant differences in comparison of positive cases to the negative ones for growth delay,internal organs deformity,low birth weight infant(LBW) and premature infant (all P ＜0.05).Conclusions (1) Besides MR/BD in different degrees in all the positive cases,they also showed growth delay,a portion of them with internal organs deformity,low birth weight infant and premature infant.(2) Subtelomeric aberrations are related to MR/BD,while the submicroscopic rearrangement in regions without subtelomeric is suspiciously pathogenic,and need to be further studied.(3) SNP-aCGH can fine mapping the region of CNVs by high resolution from the whole genome-wide,which does contribute to limit the zones for finding pathogenic region and candidate genes,as well as to offer a technology platform for investigating about the correlation of phenotype and genes or CNVs.

Analysis pathogenicity of chromosome micro imbalance in children with unexplained mental retardation or development delay / 中华实用儿科临床杂志

Objective To investigate clinically chromosome micro imbalance in children with unexplained mental retardation(MR) or development delay(DD) by using high resolution microarray comparative genomic hybridization(Array-CGH),to identify chromosome micro imbalance which might be associated with MR/DD,and evaluate the effectiveness of Array-CGH in etiological diagnosis of children with unexplained MR/DD.Methods One hundred and twenty-six children with unexplained MR/DD were recruited for this study by Array-CGH to detect chromosome micro imbalance.All chromosome micro imbalances were verified with database of genomic variation(DGV),Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources(DECIPHER) and literature review,to determine if the chromosome micro imbalances found in these children were associated with MR/DD.Results Twenty eight clinically relevant chromosome micro imbalances were detected among 26 children out of 126 children with unexplained MR/DD.The diagnostic yield for the MR/DD children was 20.6％ (26/126 cases).These chromosome micro imbalances were undetectable by chromosome analysis.All MR/DD children with chromosome micro imbalances had face dysmorphism and/or surface,organ dysmorphism.The most common abnormality was Prader-Willi syndrome/Angelman syndrome(3/26 cases,11.5％),which was followed by DiGeroge syndrome(2/26 cases,7.6％),Cri-du chat syndrome(2/26 cases,7.6％) and 16p11.2 deletion syndrome(2/26 cases,7.6％).Conclusions Chromosome micro imbalance is one of the most common causes of unexplained MR/DD.Array-CGH can detect disease associated with chromosome micro imbalance as a useful evaluation to help differential diagnosis of children with unexplained MR/DD.Screening for chromosome micro imbalance should be firstly carried out in those MR/DD children with face dysmorphism and/or surface,organ dysmorphism.

Hipomelanosis de ito en paciente de 15 meses / Hypomelanosis of Ito in a patient 15 months

La Hipomelanosis de Ito (HI) es un trastorno neurocutáneo poco prevalente en Chile y el mundo, caracterizado por lesiones hipopigmentadas que siguen las líneas de Blaschko y que se asocian principalmente a alteraciones del sistema nervioso central y/o musculoesqueléticas. Se origina como expresión de un mosaicismo inespecífico de las células pigmentarias, durante la embriogénesis. Se presenta el caso de un paciente masculino de 15 meses con lesiones hipopigmentadas características, retraso del desarrollo psicomotor, crisis convulsivas tónico ­ clónicas, microcefalia, hipotonía central severa e hipoacusia bilateral, retraso en el desarrollo dental y dismorfias faciales. Se realizó estudio, resultando sin alteraciones metabólicas, excepto por aumento progresivo de TSH (11,3 mUI/L), por lo cual se inicia tratamiento con levotiroxina. Con los hallazgos clínicos y resultados de laboratorio descritos se planteó diagnóstico de mosaicismo pigmentario, continuando estudio de forma ambulatoria. En cuanto al diagnóstico, se recomienda la utilización de los criterios de Ruiz-Maldonado que consideran la presencia de lesiones cutáneas asociado a un criterio mayor o dos menores para determinar el diagnóstico definitivo (Ver Tabla 1). La patología más importante a descartar, es la Incontinencia Pigmentaria, que se caracteriza por estar ligado exclusivamente al cromosoma X y evolución por etapas de las lesiones cutáneas en las líneas de Blaschko. En la actualidad la HI solo tiene tratamiento sintomático por cual es importante hacer un diagnóstico precoz para sobrellevar la patología adecuadamente.

Hypomelanosis of Ito (HI) is a rarely prevalent neurocutaneous disorder in Chile and the world, that is characterized by hypopigmented lesions following Blasko lines that are primarily asociated with Central Nervous Sistem and or musculoskeletal disorders. It origins as an expression of an inespecific mosaicisism of the pigmented cells during embriogénesis. We present a case of a 15 months pediatric male patient with characteristic hypopigmented lesions, delayed psychomotor development, tonic-clonic seizures, microcephaly, central hypotonia and bilateral hypoacusia, delayed dental development and facial dysmorphia. He was hospitalized for further studies resulting without metabolic disorders except for progressive enhancement of TSH (11,3 mUI/L), and thyroxine supplement was initiated. With the described clinical and laboratory findings we proposed the diagnosis of Pigmentary Mosaicism and continued ambulatory treatment. Regarding the diagnosis, given the low prevalence of this disease we recommend the use of Ruiz ­ Maldonado criteria wich considers the precense of cutaneous lesions associated with one mayor or two minor criteria for the definitive diagnosis previously discarding the more frecuent diseases. Speaking about the differential diagnosis the most important disease is Pigmentary Incontinence, characterized by its exclusive presentation in female patients and the phasic evolution of the cutaneous lesions in Blasko lines. Nowadays the IH has only sintomatic treatment wich is why its important to make an early diagnosis in order to endure adequately the disease.

One case of chromosome 4q21/22 deletion syndrome / 临床儿科杂志

Objective To enhance the understanding of clinical characteristics and genetic testing of chromosome 4q21/q22 deletion syndrome. Methods Chromosomal microarray analysis was used to detect genetic change in a child with special facial appearance and development delay. Results A 15.26-Mb deletion containing 76 geinges in chromosome 4q21.21q22.2 was identiifed. Thus, this girl was diagnosed as chromosome 4q21/q22 deletion syndrome. Conclusions Chromosome 4q21/q22 deletion syndrome has varied clinical manifestations including typical characteristics (such as absolute or relative macrocephaly, megalencephaly with a characteristic head shape and facial appearance, profound hypotonia, small hands and feet, short limbs, feeding difficulties), mental retardation/severe developmental delay, and other system abnormalities ( such as congenital heart disease, seizure, kidney cysts, etc). The diagnosis of chromosome 4q21/q22 deletion syndrome relies on chromosomal microarray analysis.

Diffusion tensor imaging study of relative white matter in language function areas of cerebral palsy children with language development delay / 中华实用儿科临床杂志

Objective To measure the fractional anisotropy(FA) values in the language function areas(Broca area,Wernicke area and arcuate fasciculus)by diffusion tensor imaging(DTI),discussing the pathological characteristics in cerebral palsy children with language development delay.Methods DTI was performed in twenty-seven cerebral palsy children with language development delay(observation group) and 20 children with febrile seizures(control group) by Philips 3.0T MRI scanner.The FA values of Broca area,Wernicke area and arcuate fasciculus were measured at Philips Workstation.Results The FA values of control group in the left Broca area,Wernicke area and arcuate fasciculusis were higher than those of the right side,and the difference was statistically significant (all P ＜ 0.05).The FA value of observation group in the left Broca area was lower than that of the right side,and the difference was statistically significant (P ＜ 0.05);the FA values of observation group in the left Wernick area and arcuate fasciculusis were higher than those of the right side,but the difference was not statistically significance (all P ＞ 0.05).The FA values in the bilateral Broca area and arcuate fasciculusis of observation group were lower than those of the control group,the difference was statistically significant (P ＜ 0.05),those in the bilateral Wernick area were also lower than the control group,but the difference was not statistically significant (P ＞ 0.05).Conclusions The main pathogenesis for language development delay in cerebral palsy children was extensive damage in language functional areas,and Broca area and arcuate fasciculus were markedly impaired than Wernick area.

Distrofa miotónica congénita en una Unidad de Cuidados Intensivos Neonatales: serie de casos / Congenital myotonic dystrophy in a Neonatal Intensive Care Unit: case series

La distrofia miotónica de Steinert es una enfermedad multisistémica, autosómica dominante, con un amplio espectro de gravedad y manifestaciones clínicas. La forma más grave es aquella que se manifesta en el periodo neonatal, llamada distrofa miotónica congénita. Se destaca la hipotonía global al nacer y el compromiso de la función respiratoria. Las complicaciones son frecuentes, principalmente, retraso del desarrollo psicomotor, del crecimiento pondoestatural, difcultades alimentarias y constipación. Se asocia a un mal pronóstico, con una mortalidad global de hasta un 50% de los niños gravemente afectados. Presentamos cinco casos de distrofa miotónica congénita con el objetivo de describir manifestaciones clínicas, métodos diagnósticos, tratamiento y pronóstico. Los datos existentes en la literatura sobre el desarrollo psicomotor, complicaciones y pronóstico de los supervivientes con distrofa miotónica congénita son pocos. En nuestra serie de casos, las limitaciones psicomotoras presentadas son signifcativas.

Steinert myotonic dystrophy is a multisystemic disease, autosomal dominant, with a wide spectrum of severity and clinical manifestations. The most severe form is one that manifests in the neonatal period, called congenital myotonic dystrophy. This condition is distinguished by overall hypotonia at birth and respiratory function compromise. Complications are frequent, mainly psychomotor development delay, growth failure, food diffculties and constipation. It is associated with a poor prognosis, with an overall mortality of up to 50% of severely affected children. We present fve patients with congenital myotonic dystrophy in order to describe clinical manifestations, diagnosis, treatment and prognosis. Existing data in the literature on psychomotor development, complications and prognosis of survivors withcongenital myotonic dystrophy are scarce. In our case studies, we have found signifcant chronic psychomotor limitations.

Application of gene capture technology combined with next generation sequencing technology on methylmalonic acidemia / 中华实用儿科临床杂志

Objective To assess the efficiency and reliability of clinical genetic diagnosis of methylmalonic acidemia(MMA) using new generation sequencing platform (HiSeq2000).Methods 1.Nine patients diagnosed with clinical signs of MMA were recruited.DNA library from the patients were mixed with designed gene capture probe.The whole exons region of 48 genes related to organic acid metabolism were screened using the gene capture combined with high-throughput sequencing.2.The joints were removed and the low quality data were filtered,the data were analyzed by means of SNP and InDel.To avoid the false positive,the abnormal sites were verified using the Sanger sequencing method.3.The detection of the organic acid in the urine was performed through gas chromatography-mass spectrometry and other auxiliary examinations.Results 1.Gene mutation:7 gene mutations of MMACHC were identified in 7 patients.Seven mutations:c.482G ＞ A,c.567_568insT,c.609G ＞ A,c.440_441del,c.80A ＞ G,c.315C ＞ G,c.90G ＞ Awere screened.The mutation c.440_441del had not been reported before,and others were all related to the disease.Two gene mutations of mutase apoenzyme(MUT) were identified in 1 case,all of which were introns:.c.754-1G ＞ C,c.1677-1G ＞ A.The novel mutation was c.754-1G ＞ C.No gene mutation was identified in 1 patient.2.Clinical manifestation:all of the patients were development delay,but the degrees were different;3 patients with convulsion; 1 patient with headache and central facial paralysis;1 patient with repeated intractable metabolic acidosis;1 patient with repeated hemolysis.Electroencephalogram of the all patients were abnormal;the result of cranial MRI of the 8 patients were abnormal;In all patients,urine level of methylmalonic acid significantly increased (273.4-146 022.8 times).Blood homo cysteine of 8 patients were significantly increased(27.13-396.84 μmol/L,normal ＜ 20 μmol/L).3.Sanger sequencing:there were no false positive exists.Conclusions 1.There were not a correlation between the clinical manifestation and gene mutation of the patients with MMA.The c.609G ＞ A was the hotspot mutation of MMACHC gene in Chinese patients with MMA and homocysteinemia.2.The mutations c.440_441del and c.754-1G ＞ C were presumed to be novel mutations.3.Gene capture technology combined with next-generation sequencing technology could be used to interrogate the wealth of data available in the human genome and lay the foundations for counseling of gene.This platform can be readily and timely adopted by clinical molecular diagnosis of MMA and represents a high throughput,high sensitivity,high efficiency and other characteristics approach for screening common genetic diseases.

Effect of Auditory Integration Training on Language Development in Mental Retardation Children / 中国康复理论与实践

Objective To observe the effects of auditory integration training on language development delay in mental retardation chil-dren. Methods 40 cases were devided into observation group (n=20) and control group (n=20). All the children accepted speech training, while the observation group accepted auditory integration training in addition. They were assessed with the development quotient (DQ) of adaptability and language of Gesell developmental schedules before and 6 months after treatment. Results DQ of adaptability and language improved after treatment in both groups (P<0.05), and improved more in the observation group than in the control group (P<0.05). Conclu-sion Auditory integration training may further improve the language development in mental retardation children.

O retardo mental na distrofia muscular de Duchenne / Mental retardation in Duchenne muscular dystrophy

OBJETIVO: Fazer um levantamento da literatura médica destinada ao estudo das disfunções cognitivas nos pacientes com distrofia muscular de Duchenne, através da descrição dos marcos do desenvolvimento neuropsicomotor e dos testes psicométricos para quantificação da inteligência. FONTES DOS DADOS: Revisão não sistemática sobre os aspectos da cognição na distrofia muscular de Duchenne nas principais bases médicas científicas: MEDLINE, LILACS, Biblioteca Cochrane e SciELO. SÍNTESE DOS DADOS: Os pacientes com distrofia muscular de Duchenne apresentaram atraso para marcha e desenvolvimento da linguagem, os quais se correlacionaram a menores pontuações nos testes de inteligência no futuro. Há marcante disfunção nos subtestes das habilidades verbais. CONCLUSÕES: A média do coeficiente de inteligência encontra-se com um desvio padrão abaixo da média populacional. Quanto maior a disfunção cognitiva, piores serão os aspectos relacionados à morbidade e mortalidade na doença.

OBJECTIVE: To survey the medical literature directed to the study of cognitive dysfunction in patients with Duchenne muscular dystrophy through description of the milestones of neurological development and psychometric tests for quantifying intelligence. SOURCES: Non-systematic review of aspects of cognition in Duchenne muscular dystrophy in the major medical scientific bases: MEDLINE, LILACS, SciELO and Cochrane Library. SUMMARY OF THE FINDINGS: Patients with Duchenne muscular dystrophy exhibited delay in walking and language development, which correlated with lower scores on future intelligence tests. There is marked impairment in the verbal subtests. CONCLUSIONS: Average IQ has standard deviation below the average of the population. The greater the cognitive impairment, the worse aspects related to morbidity and mortality in the disease will be.

Effect of Scalp Acupuncture Combined with Speech Training on Language Development Delay in Mental Retardation Children / 中国康复理论与实践

@#Objective To observe the effect of scalp acupuncture combined with speech training on language development delay in mental retardation children. Methods 40 cases were divided into 2 groups, 20 cases in each group. The observation group was treated with scalp acupuncture combined with speech training. The control group was treated with speech training. They were assessed with the development quotient (DQ) of adaptability and language of Gesell Developmental Schedules before and 3 months after the treatment. Results DQ of adaptability and language improved after treatment in both groups (P<0.05), and improved more in the observation group than in the control group (P<0.05). Conclusion Scalp acupuncture combined with the speech training is more effective on language development delay in mental retardation children.

Problemas auditivos en preescolares, según estudio audiológico y percepción de educadores: Región Metropolitana, diciembre 2005 / Hearing problems in preschool children according to audiologic examination and teachers perception: Metropolitan Region, 2005

Introducción: La relación entre audición y desarrollo neuropsicológico está ampliamente demostrada. Pérdidas auditivas leves o incluso unilaterales se asocian a retraso del lenguaje y dificultades escolares. En Chile no existe un tamizado auditivo masivo para los preescolares y escolares, sino una pesquisa en base a estimación subjetiva de la audición en los programas de salud escolar de la Junta Nacional de Auxilio Escolar y Becas. Objetivo: Conocer la prevalencia de hipoacusia en preescolares y correlacionarlo con la percepción de educadores sobre la audición y lenguaje de los niños. Sujetos y Métodos: Durante diciembre de 2005 se citó a todos los niños de 4 y 5 años de un jardín infantil del área norte de la RM, a una evaluación audiológica consistente en otoscopía, audiometría e impedanciometría, realizada en el laboratorio de Otoneurología de la Escuela de Tecnología Médica (Universidad de Chile). Previamente y sin mediar entrenamiento se interrogó a las educadoras acerca de la sospecha de pérdida auditiva o problemas de lenguaje en los niños evaluados. Resultados: Se evaluaron 87 de 100 preescolares, edad promedio 4,4 años. Trece niños (15%) tenía problemas audiológicos, de éstos, diez no pasaron el tamizado auditivo, lo que da una tasa de hipoacusia de 11,6%; todos correspondieron a hipoacusia de transmisión. La sensibilidad de las educadoras para pesquisarla fue 50%. No se correlacionó la percepción de problemas de lenguaje con hipoacusia. Conclusión: Destaca la alta frecuencia de problemas audiológicos encontrados. La sola sospecha de hipoacusia por parte de los educadores es insuficiente como método de preselección, ya que pesquisa sólo a la mitad de los afectados. Estos hallazgos hacen plantearnos la necesidad de implementar tamizados auditivos objetivos a todos los niños al comenzar su educación formal.

The relationship between hearing and neuropsychological development has been widely demostrated. Mild or unilateral hearing lost are linked to language development delay and learning difficulties. Chile does not have a universal audition screening program for preschool and school children. The school health programs sponsored by the JUNAEB relay on teachers suspicion for early detection of hearing problems. Objective: To determine the prevalence of hearing lost in preschool children and correlate these findings with teachers perception in relation to audition and language development. Method: Children 4 and 5 years-old attending school in the northern area of Santiago during December 2005 were scheduled for an audiological evaluation, consisting in otoscopy, audiometry and tympanometry performed at the School of Medical Technology and Otoneurology Laboratory, University of Chile. Previously and without training, teachers gave their perception on hearing lost and language problems in the evaluated children. Results: 87 children were evaluated, with mean age 4,4 years-old. 15% presented audition problems and 8,7% did not pass the hearing evaluation, corresponding to conductive hearing lost. Detection of hearing problems by teachers presented a 50% sensibility. There was no correlation between language problems and hearing lost. Conclusions: The frequency of audition problems is remarkable high. The teachers suspicion alone is not enough as a screening method, because it only detects 50% of children with hearing problems. These findings point out the need to implement a universal audition screening for children beginning their formal education.

Neurodevelopmental Outcomes of Very Low Birth Weight Infants

PURPOSE: The objective of this study was to observe the neurodevelopmental outcomes of the surviving very low birth weight infants (VLBWIs) and to identify the perinatal risk factors having influences on to poor neurodevelopmental outcomes . METHODS: The VLBWIs weighing 500 to 1,499 g at birth who had survived to discharge from one NICU during about a 2 year period were followed-up and assessed with using the Baley Scales of Infant Development-Second Edition (BSID-II) test and neurologic examinations when the infants corrected age was between 12 and 24 months. Developmental delay was defined as a MDI less than 70 or a PDI less than 70. The birthweight specific rates of developmental delay and cerebral palsy were examined. The perinatal data were retrospectively collected from the medical records to identify peinatal risk factors that had an influence on poor neurologic outcomes. RESULTS: Thirty three (42.9%) of the 77 VLBWIs were assessed with the BSID-II and neurologic examination, when their corrected age was between 12 and 24 months. The rate of developmental delay and cerebral palsy in the assessed infants was 15.2% and 21.2%, respectively. Extremely low birth weight infants (ELBWIs) had high rates of developmental delay (30.8%) and cerebral palsys (30.8%). Maternal old age (>35 years, odds ratio=18.0, 95% CI, 1.2-262.7, P=0.035) and periventricular leukomalacia (PVL, odds ratio=12.6, 95% CI, 1.1-148.1, P=0.044) were independently associated with developmental delay and cerebral palsy, respectively. CONCLUSION: Significant poor neurodevelopmental outcome for the VLBW infants needs a more extended follow-up study for development, and especially for the ELBWIs.

The Usefulness of Bayley Scale of Infant Development II in the Diagnosis of Cerebral Palsy

OBJECTIVE: To evaluate the usefulness of Bayley scale of infant development, 2nd (BSID-II) in the diagnosis of cerebral palsy (CP) among the early childhood with delayed development. METHOD: We performed the BSID-II for children with delayed development who were diagnosed as CP or global developmental delay (GDD). The characteristics of mental developmental index (MDI) and psychomotor developmental index (PDI) of BSID-II were evaluated and sensitivity and specificity of BSID-II in the diagnosis of CP were studied. RESULT: While both MDI and PDI were decreased similarly in the GDD, PDI were significantly more decreased than MDI in the CP. The CP with hemiplegic pattern showed high MDI and PDI compared to those with the other patterns. When abnormal PDI defined as lower than 85 was used as a diagnostic criteria of CP, sensitivity and specificity were 0.88 and 0.41. When abnormal PDI defined as 13 and higher than MDI was used, sensitivity and specificity for the diagnosis of CP were 0.50 and 0.84. CONCLUSION: The characteristic findings of BSID-II in the CP could be used as a supportive diagnostic measurement. We should interpret carefully in the children with hemiplegic pattern because they had a near normal MDI and higher PDI than functional status of hemiplegic limbs.