RESUMEN
Fetal alcohol spectrum disorder (FASD) describes a constellation of physical, cognitive, neurologic, and behavioral impairments resulting from prenatal exposure to alcohol. FASD is recognized as being one of the most common causes of preventable brain injury in children. There had long been concerns that some youth in conflict with the law may be affected with FASD given repetitive patterns of offending and apparent lack of understanding of the consequences of their actions. In 2004, funding was received from Justice Canada for a pilot project with a cross-departmental steering committee working together to determine a best way of working across systems to provide FASD assessments to these youth. It was recognized that provision of timely FASD assessments would allow the court to provide more meaningful sentences taking into account the youth's strengths and challenges and enhance the changes of decreased recidivism and increased changes of rehabilitation. This paper describes the basic science around FASD and its diagnosis, provides a history of the FASD Youth Justice Program, and reports on legal issues, structure, statistics, accomplishments, and ongoing future challenges.
Asunto(s)
Conducta Criminal/fisiología , Trastornos del Espectro Alcohólico Fetal/psicología , Trastorno de la Conducta Social/psicología , Adolescente , Adulto , Femenino , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Trastornos del Espectro Alcohólico Fetal/epidemiología , Humanos , Masculino , Manitoba , Trastorno de la Conducta Social/diagnóstico , Trastorno de la Conducta Social/epidemiologíaRESUMEN
INTRODUCTION: Early identification of autism spectrum disorders (ASD) is important, since earlier exposure to behavioural intervention programs may result in better outcomes for the child. Moreover, it allows families timely access to other treatments and supports. METHODS: Using generalized linear modeling, we examined the association between child and family characteristics and the age at which 2180 children were diagnosed with ASD between 1997 and 2005 in six Canadian regions. RESULTS: A diagnosis of pervasive developmental disorder-not otherwise specified (PDD-NOS) or Asperger syndrome, rural residence, diagnosis in more recent years, and foreign birthplace were associated with a later age at diagnosis. Children who are visible minorities or who have siblings with ASD were more likely to be diagnosed earlier. Collectively, these factors explained little of the variation in age at diagnosis, however. CONCLUSION: While it is encouraging that ethnocultural identity, neighbourhood income, urban or rural residence, and sex of the child were not major contributors to disparities in the age when children were identified with ASD, more work is needed to determine what does account for the differences observed. Regional variations in the impact of several factors suggest that aggregating data may not be an optimal strategy if the findings are meant to inform policy and clinical practice at the local level.
Asunto(s)
Síndrome de Asperger/diagnóstico , Trastorno Autístico/diagnóstico , Trastorno Autístico/epidemiología , Factores de Edad , Síndrome de Asperger/epidemiología , Síndrome de Asperger/genética , Trastorno Autístico/genética , Canadá/epidemiología , Niño , Preescolar , Diagnóstico Tardío , Emigración e Inmigración , Femenino , Humanos , Modelos Lineales , Masculino , Características de la Residencia , Población RuralRESUMEN
Mutations in the SCN1A gene can cause a variety of dominantly inherited epilepsy syndromes. Severe phenotypes usually result from loss of function mutations, whereas missense mutations cause a milder phenotype by altering the sodium channel activity. We report on a novel missense variant (p.Val1379Leu) in the SCN1A gene segregating in an autosomal dominant pattern in a family exhibiting a variable epilepsy phenotype ranging from generalized epilepsy with febrile seizures during infancy to a well controlled seizure disorder in adulthood. This report supports the importance of SCN1A mutation analysis in families in which seizure disorders segregate in an autosomal dominant fashion.
Asunto(s)
Epilepsia/genética , Genes Dominantes , Variación Genética/genética , Mutación Missense/genética , Proteínas del Tejido Nervioso/genética , Canales de Sodio/genética , Preescolar , Epilepsia/diagnóstico , Regulación de la Expresión Génica , Humanos , Leucina/genética , Masculino , Canal de Sodio Activado por Voltaje NAV1.1 , Proteínas del Tejido Nervioso/biosíntesis , Linaje , Convulsiones Febriles/diagnóstico , Convulsiones Febriles/genética , Canales de Sodio/biosíntesis , Valina/genéticaRESUMEN
Bardet-Biedl syndrome (BBS) is a multisystem genetically heterogeneous disorder, the clinical features of which are largely the consequence of ciliary dysfunction. BBS is typically inherited in an autosomal recessive fashion, and mutations in at least 14 genes have been identified. Here, we report the identification of a founder mutation in the BBS2 gene as the cause for the increased incidence of this developmental disorder in the Hutterite population. To ascertain the Hutterite BBS locus, we performed a genome-wide single nucleotide polymorphism (SNP) analysis on a single patient and his three unaffected siblings from a Hutterite family. The analysis identified two large SNP blocks that were homozygous in the patient but not in his unaffected siblings, one of these regions contained the BBS2 gene. Sequence analysis and subsequent RNA studies identified and confirmed a novel splice site mutation, c.472-2A>G, in BBS2. This mutation was also found in homozygous form in three subsequently studied Hutterite BBS patients from two different leuts, confirming that this is a founder mutation in the Hutterite population. Further studies are required to determine the frequency of this mutation and its role, if any, in the expression of other ciliopathies in this population.
Asunto(s)
Síndrome de Bardet-Biedl/genética , Etnicidad/genética , Efecto Fundador , Adolescente , Adulto , Niño , Preescolar , Análisis Mutacional de ADN , Estudio de Asociación del Genoma Completo , Humanos , Lactante , Recién Nacido , Masculino , Polimorfismo de Nucleótido Simple , Sitios de Empalme de ARN/genética , Población Blanca/genéticaRESUMEN
It has been almost 25 years since the Chernobyl nuclear accident in Ukraine. We review relevant data derived from published reports originating in the Former Soviet Union. We cite census data from Ukraine and research studies from Western Europe that analyzed the effect of radiation on genetics and health outcome in the exposed populations. We also present philatelic materials that pictorially captured that fateful event in history.
Asunto(s)
Accidente Nuclear de Chernóbil , Animales , Monitoreo del Ambiente , Europa (Continente) , Humanos , Filatelia , U.R.S.S. , UcraniaRESUMEN
We describe two males with intellectual disability (ID) and facial dysmorphism, both of whom have non-mosaic Y chromosome rearrangements resulting in deletions of large portions of the Y chromosome. Patient A, with ID, mild dysmorphism, speech delay, Duane anomaly of the eye, hypermetropia and conductive hearing loss, had two structurally rearranged Y chromosomes resulting in both p and q arm deletions in addition to a Yp duplication. Patient B, also with speech and language delay, developmental delay and short stature, had an interstitial deletion of Yq11.21-11.23. Array-CGH excluded the presence of additional submicroscopic rearrangements at the 1 Mb resolution level. A review of males with Y chromosome rearrangements and ID was performed. Our study provides a more detailed molecular cytogenetic assessment of Y rearrangements in individuals with ID than has been previously possible, and facilitates assessment and comparison of other individuals with a Y chromosome rearrangement.
Asunto(s)
Cromosomas Humanos Y , Análisis Citogenético , Discapacidades del Desarrollo/genética , Reordenamiento Génico , Trastornos del Desarrollo del Lenguaje/genética , Niño , Cromosomas Artificiales Bacterianos , Hibridación Genómica Comparativa , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Adulto JovenRESUMEN
The heterogeneity of autism spectrum disorders (ASDs) confounds attempts to identify causes and pathogenesis. Identifiable endophenotypes and reliable biomarkers within ASDs would help to focus molecular research and uncover genetic causes and developmental mechanisms. We used dense surface-modelling techniques to compare the facial morphology of 72 boys with ASD and 128 first-degree relatives to that of 254 unrelated controls. Pattern-matching algorithms were able to discriminate between the faces of ASD boys and those of matched controls (AUC=0.82) and also discriminate between the faces of unaffected mothers of ASD children and matched female controls (AUC=0.76). We detected significant facial asymmetry in boys with ASD (P<0.01), notably depth-wise in the supra- and periorbital regions anterior to the frontal pole of the right hemisphere of the brain. Unaffected mothers of children with ASD display similar significant facial asymmetry, more exaggerated than that in matched controls (P<0.03) and, in particular, show vertical asymmetry of the periorbital region. Unaffected fathers of children with ASD did not show facial asymmetry to a significant degree compared to controls. Two thirds of unaffected male siblings tested were classified unseen as more facially similar to unrelated boys with ASD than to unrelated controls. These unaffected male siblings and two small groups of girls with ASD and female siblings, all show overall directional asymmetry, but without achieving statistical significance in two-tailed t-tests of individual asymmetry of ASD family and matched control groups. We conclude that previously identified right dominant asymmetry of the frontal poles of boys with ASD could explain their facial asymmetry through the direct effect of brain growth. The atypical facial asymmetry of unaffected mothers of children with ASD requires further brain studies before the same explanation can be proposed. An alternative explanation, not mutually exclusive, is a simultaneous and parallel action on face and brain growth by genetic factors. Both possibilities suggest the need for coordinated face and brain studies on ASD probands and their first-degree relatives, especially on unaffected mothers, given that their unusual facial asymmetry suggests an ASD susceptibility arising from maternal genes.
Asunto(s)
Trastorno Autístico/genética , Encéfalo/anatomía & histología , Cara/anatomía & histología , Asimetría Facial/genética , Expresión Facial , Adolescente , Adulto , Niño , Preescolar , Femenino , Historia del Siglo XVII , Humanos , Masculino , Madres , HermanosRESUMEN
Stem cell research has generated intense excitement, awareness, and debate. Events in the 2005-2006 saw the rise and fall of a South Korean scientist who had claimed to be the first to clone a human embryonic stem cell line. From celebration of the potential use of stem cells in the treatment of human disease to disciplinary action taken against the disgraced scientists, the drama has unfolded throughout the world media. Prompted by an image of therapeutic cloning presented on a South Korean stamp, a brief review of stem cell research and the events of the Woo-suk Hwang scandal are discussed.
Asunto(s)
Línea Celular , Células Madre Embrionarias/citología , Mala Conducta Científica , Animales , Células Clonales/citología , Células Clonales/trasplante , Clonación de Organismos/ética , Clonación de Organismos/legislación & jurisprudencia , Investigaciones con Embriones/ética , Investigaciones con Embriones/legislación & jurisprudencia , Células Madre Embrionarias/trasplante , Células Madre Hematopoyéticas/citología , Humanos , Corea (Geográfico) , Técnicas de Transferencia Nuclear , Filatelia , Trasplante de Células MadreRESUMEN
Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation. Mutations causing loss of function of the FRAS1 gene have been demonstrated in five patients with Fraser syndrome. However, no phenotype-genotype correlation was established and there was evidence for genetic heterogeneity. Fraser syndrome is rare and the FRAS1 gene has 75 exons, complicating mutation screening in affected patients. We have screened two patients who fulfilled the diagnostic criteria for Fraser syndrome and three patients with related phenotypes (two patients with Manitoba oculotrichoanal syndrome and one patient with unilateral cryptophthalmos and labial fusion) for mutations in FRAS1 to increase the molecular genetic data in patients with Fraser syndrome and related conditions. We report two new mutations in a patient with Fraser syndrome, a frameshift mutation and a deletion of two amino acids that we consider pathogenic as both alter the NG2-like domain of the protein. Although we are still unable to clarify a phenotype-genotype relationship in Fraser syndrome, our data add to the list of mutations associated with this syndrome.
Asunto(s)
Proteínas de la Matriz Extracelular/genética , Párpados/anomalías , Facies , Mutación , Sindactilia/genética , Adolescente , Preescolar , Análisis Mutacional de ADN , Femenino , Mutación del Sistema de Lectura , Humanos , Lactante , Eliminación de Secuencia , SíndromeRESUMEN
The nomenclature describing the phenotype of missing central rays in the hand and/or foot in the genetics and surgical literature is heterogeneous and confusing. Split hand/foot malformation (SHFM) is the most common term for this phenotype in the genetics community; however, other names such as the offensive 'lobster-claw malformation' and the non-specific 'ectrodactyly' are still utilized to describe this malformation. In this article, we briefly review the nomenclature associated with SHFM and its classifications.
Asunto(s)
Deformidades Congénitas del Pie/clasificación , Deformidades Congénitas del Pie/patología , Deformidades Congénitas de la Mano/clasificación , Deformidades Congénitas de la Mano/patología , Terminología como Asunto , Deformidades Congénitas del Pie/epidemiología , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/epidemiología , Deformidades Congénitas de la Mano/genética , HumanosRESUMEN
With philatelic illustrations, we review sickle cell anemia, some of the common hemoglobinopathies, and their relevance to malaria. We discuss the mechanism by which hemoglobinopathies arise, the progress made with pre-natal screening, as well as innovative therapies. We review recent developments in the pathophysiology of malaria and discuss innovations in the effort against this parasite.
Asunto(s)
Hemoglobinopatías , Malaria , Filatelia , Hemoglobinopatías/diagnóstico , Hemoglobinopatías/etiología , Hemoglobinopatías/terapia , Humanos , Malaria/fisiopatología , Malaria/prevención & controlRESUMEN
Krabbe disease, a disorder caused by the deficiency of lysosomal galactosylceramidase, is typically associated with cerebral white matter degeneration, cortical sparing, accumulation of macrophages ("globoid cells"), and ultrastructural needle-shaped inclusions. Two sisters presented with progressive neurological deterioration beginning before the age of 2.5 years. The first, who died at the age of 9 years, exhibited profound destruction of cerebral white matter with sparing of subcortical fibers but no globoid cells. The brain of the second, who died at the age of 15 years and who had a proven galactosylceramidase deficiency, exhibited white matter destruction, previously undescribed circumscribed spongiform cortical degeneration (postcentral, inferior temporal, cingulate), and cerebellar atrophy, but no globoid cells. The peripheral nerve biopsies from both girls exhibited typical needle-shaped inclusions in Schwann cells. These observations confirm the rare reports that Krabbe disease is not always associated with globoid cells in the brain. Psychosine, which accumulates in the brain, might be toxic to cortical neurons following prolonged survival. The reason for the regional susceptibility in the cerebral cortex is unknown.
Asunto(s)
Corteza Cerebral/patología , Leucodistrofia de Células Globoides/genética , Leucodistrofia de Células Globoides/patología , Edad de Inicio , Femenino , Humanos , Lactante , HermanosRESUMEN
Epilepsy is a common neurologic disorder. Major advances in the understanding of the etiology and treatment have occurred. Although most cases of epilepsy do not follow a simple pattern of inheritance, recently single gene epilepsy disorders have been identified. We present some postage stamps to illustrate issues and advances in knowledge about epilepsy, as well as famous people with this disorder.
Asunto(s)
Epilepsia/historia , Filatelia , Europa (Continente) , Genética/historia , Historia del Siglo XIX , Historia del Siglo XX , Humanos , JapónRESUMEN
Autism spectrum disorders (ASD) represent a heterogeneous group of developmental disorders that present a challenge to geneticists because of their complex etiology and inheritance. This article reviews some of the advances in our understanding of causation in ASD and the role in which molecular genetic investigations have helped in unraveling the mystery of ASD. There have been few postage stamps issued relevant to ASD. Because of the need for early diagnosis and improved recognition, some countries may consider issuing stamps to highlight the importance of ASD to the population and to raise awareness and money for research funding.
Asunto(s)
Trastorno Autístico/epidemiología , Trastorno Autístico/etiología , Filatelia , Animales , California/epidemiología , Moléculas de Adhesión Celular Neuronal/genética , Cromosomas Humanos X , Proteínas de la Matriz Extracelular/genética , Femenino , Ligamiento Genético , Proteínas de Homeodominio/genética , Humanos , Masculino , Monoaminooxidasa/genética , Proteínas del Tejido Nervioso , Ratas , Proteína Reelina , Serina Endopeptidasas , Talidomida/toxicidad , Factores de Transcripción/genética , Estados Unidos/epidemiologíaRESUMEN
Georges Marinesco was one of Romania's most eminent physicians and an accomplished neurologist. He had diverse interests in anatomy and neuropathology. He has been honored on postage stamps issued by his birth nation on several occasions. Neurologists and geneticists know of him for the rare familial degenerative neurological disorder that has been named after him, the Marinesco-Sjögren syndrome.
Asunto(s)
Filatelia , Historia del Siglo XIX , Historia del Siglo XX , Neurología/historia , RumaníaRESUMEN
We describe the first association of pulmonary atresia, intact ventricular septum, and absent central pulmonary arteries with deletion 22q11.2. The pulmonary blood flow was derived from major aortopulmonary collaterals. The role of the deletion in pulmonary arborization is discussed.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 22 , Arteria Pulmonar/anomalías , Atresia Pulmonar/genética , Circulación Colateral , Resultado Fatal , Humanos , Recién Nacido , MasculinoRESUMEN
The purpose of the study was to delineate the anomalies and the natural life history of persons with the Bowen-Conradi syndrome [Bowen and Conradi 1976: Birth Defects: Orig Artic Ser XII(6):101-108]. We ascertained 39 cases and personally examined almost all. For those who were not seen, their clinical record were scrutinized. Pedigree analysis of all 39 was done and kinship coefficients computed. The birth prevalence was estimated to be 1/355 live births.
Asunto(s)
Anomalías Craneofaciales/fisiopatología , Retardo del Crecimiento Fetal/fisiopatología , Trastornos Psicomotores/fisiopatología , Anomalías Craneofaciales/genética , Femenino , Retardo del Crecimiento Fetal/genética , Humanos , Cariotipificación , Masculino , Linaje , Trastornos Psicomotores/genéticaRESUMEN
Down syndrome (DS) is one of the most common chromosomal disorders; however, the molecular pathogenesis and cause remains elusive. Many advances have been made in pre-natal screening and detection, but there have been few real advances in the primary prevention or treatment of DS. DS individuals have been depicted on several philatelic materials; we present some of these stamps and philatelic covers, as well as other complementary stamps, as a means to illustrate issues relevant to this disorder.
Asunto(s)
Síndrome de Down/genética , Pasatiempos , Filatelia , Cromosomas Humanos Par 21/genética , HumanosRESUMEN
This essay liberally uses stamps from around the world to illustrate the many tools at the disposal of clinical geneticists and dysmorphologists. The tools begin with the construction of a family tree and eventually lead to the utilization of computers and the Internet as important diagnostic resources.