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1.
Medicine (Baltimore) ; 98(51): e18077, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860958

RESUMO

RATIONALE: Angelman syndrome (AS) is an uncommon genetic disease characterized as serious retarded mental development and ocular abnormality. PATIENT CONCERNS: This report aims to present the ophthalmological features, and identify the diagnosis and outcomes of strabismus surgery in AS patients. DIAGNOSIS: Three children with exotropia were diagnosed with AS based on their typical clinical features. INTERVENTIONS: All patients underwent multiplex ligation-dependent probe amplification (MLPA) analysis and accepted lateral rectus recession surgery with the assistance of intravenous combined inhalation anesthesia. OUTCOMES: The maternal heritage deletion of chromosome 15q11.2-q13 was verified in all patients by MLPA. All patients with strabismus could not cooperate during the vision test, and had astigmatism. The strabismus type of AS patients was horizontal exotropia, and no vertical strabismus was found. One of these patients was combined with high myopia. The hypopigmentation on the hair and iris was ubiquitous. However, retina pigmentation was normal. After different degrees of lateral rectus recession, the exotropia was significantly relieved, and the surgical effects were stable postoperatively. LESSONS: Horizontal exotropia is the major strabismus type. Severe intellectual disability, hyperactivity, and speech impairment are the common characteristics of AS children. Its examination and operation design remains challenging. Thus, repeated examinations and intelligence rehabilitation are essential.


Assuntos
Síndrome de Angelman/diagnóstico , Exotropia/diagnóstico , Exotropia/cirurgia , Movimentos Oculares/fisiologia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Síndrome de Angelman/complicações , Criança , Pré-Escolar , China , Exotropia/complicações , Feminino , Humanos , Masculino , Músculos Oculomotores/fisiopatologia , Prognóstico , Doenças Raras , Recuperação de Função Fisiológica , Estrabismo/complicações , Estrabismo/diagnóstico , Estrabismo/cirurgia , Resultado do Tratamento , Testes Visuais
2.
Codas ; 31(4): e20180177, 2019 Aug 22.
Artigo em Português, Inglês | MEDLINE | ID: mdl-31460569

RESUMO

PURPOSE: This study aimed to present findings on language, behavior, and neurodevelopment in a girl diagnosed with Angelman Syndrome, evaluated when she was three and eight years old. METHODS: The following evaluation instruments were used: Observation of Communication Behavior, Early Language Milestone (ELM) Scale, and Denver Developmental Screening Test, 2nd edition (DDST-II). RESULTS: In this case report, presence of AS phenotype signals such as wide mouth and wide-spaced teeth, tongue thrusting, strabismus, up slanting palpebral fissures, and sialorrhea are verified. Expressive and receptive deficits were verified in the language assessment, with the absence of orality and loss of comprehension with very similar performances in both evaluations. The ELM and DDST-II tests indicated severe impairment of all abilities evaluated at both three and eight years of age. Performance was quite similar in both evaluations in all areas of child development. Little progress was observed over time despite the great therapeutic and educational investment. CONCLUSION: The presence of a complex scenario such as AS demands high complexity clinical needs, a situation that is worsened due to scarcity of therapeutic resources that could minimize the harmful impacts of AS and culminate in increased quality of life for the AS population and their families.


Assuntos
Síndrome de Angelman/reabilitação , Transtornos do Neurodesenvolvimento/reabilitação , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/psicologia , Criança , Desenvolvimento Infantil , Comunicação , Feminino , Humanos , Desenvolvimento da Linguagem , Testes de Linguagem , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/psicologia , Testes Neuropsicológicos , Desempenho Psicomotor
4.
Mol Med Rep ; 20(2): 1178-1186, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31173236

RESUMO

Angelman syndrome (AS) is a congenital neuro-developmental disorder typically occurring due to functional defects of the UBE3A gene caused by uniparental disomy (UPD), translocation or single gene mutation. UBE3A gene exhibits imprinting expression, and only maternal inherited alleles express functional UBE3A protein in the brain. The common method to diagnose AS is single nucleotide polymorphism array or methylation­specific multiplex ligation­dependent probe amplification (MS­MLPA). In recent years, whole exome sequencing (WES) has been increasingly used in the genetic diagnosis of a variety of indications, exhibiting great advantages as a comprehensive and unbiased testing method. In the present study, the cases of two unrelated patients with Robertsonian­like translocation in chromosome 15, namely 45,XX,der(15;15)(q10;q10) and 45,XY,der(15;15)(q10;q10), are reported. The first case was diagnosed with AS by WES and validated by Sanger sequencing. In contrast to 42.84%  homozygous variants on all chromosomes, 92.69%  homozygosity variants were observed on chromosome 15. A homozygous stretch identifier was applied and identified a homozygous region across the entire chromosome 15. Sanger sequencing was used to further determine the subtype and confirm that two homozygous variants on chromosome 15 with low allele frequency (<0.01) were derived only from the father and not from the mother, thereby indicating a paternal UPD case, classified as isodisomy. MS­MLPA results of the other AS patient with the same karyotype indicated that he had a high possibility of paternal UPD at chromosome 15. Taken together, the current study suggested the potential application of WES in detecting and facilitating the diagnosis of UPD.


Assuntos
Síndrome de Angelman/genética , Metilação de DNA , Dissomia Uniparental , Sequenciamento Completo do Exoma , Alelos , Síndrome de Angelman/diagnóstico , Pré-Escolar , Feminino , Homozigoto , Humanos , Masculino , Reação em Cadeia da Polimerase Multiplex
5.
Dev Neurorehabil ; 22(8): 516-526, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31116614

RESUMO

Purpose: This study was designed to assess memory, imitation of motor actions and motor performance by 12 children (age range 40-151 months) with Angelman syndrome (AS), a rare neurogenetic disorder associated with learning and memory impairments. Methods: Children's functioning was assessed at several time points over a 3-month period. Results: Memory and motor performance tests had acceptable test-retest and inter-rater reliability whereas the motor imitation test did not. Children were able to recall action sequences after a 24-h delay. Memory and motor performance scores were correlated with children's chronological age and raw scores on subdomains of the Vineland-II. Conclusions: These behavioral tests require further development and evaluation but may show promise to accompany standardized assessments that are currently in use with children with AS.


Assuntos
Síndrome de Angelman/diagnóstico , Comportamento Imitativo , Memória , Destreza Motora , Síndrome de Angelman/psicologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Testes Neuropsicológicos/normas , Reprodutibilidade dos Testes
7.
J Autism Dev Disord ; 49(4): 1717-1726, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30542941

RESUMO

Children with neurogenetic syndromes (NGS) experience comorbid challenging behaviors and psychopathology. We examined challenging behaviors in 86 toddlers and preschoolers across three NGS [Angelman syndrome (AS), Prader-Willi syndrome (PWS), and Williams syndrome (WS)] and 43 low-risk controls (LRC), using the Child Behavior Checklist for Ages 1½-5. Challenging behavior profiles differed across NGS, with generally elevated behaviors in AS and WS, but not PWS, relative to LRC. Withdrawn and autism spectrum symptoms were particularly elevated in AS. Although several profiles were similar to those previously reported in older children and adults, we also observed inconsistencies that suggest non-linear developmental patterns of challenging behaviors. These findings underscore the importance of characterizing early challenging behaviors to inform atypical phenotypic development and targeted intervention.


Assuntos
Síndrome de Angelman/psicologia , Transtornos do Comportamento Infantil/psicologia , Síndrome de Prader-Willi/psicologia , Síndrome de Williams/psicologia , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/epidemiologia , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/epidemiologia , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/epidemiologia , Relatório de Pesquisa , Síndrome de Williams/diagnóstico , Síndrome de Williams/epidemiologia
8.
Semin Pediatr Neurol ; 26: 60-62, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29961522

RESUMO

In patients presenting with global developmental day, eliciting a history of consanguinity may increase a clinician׳s bias toward suspecting an autosomal recessive etiology. We present 3 cases wherein children of consanguineous parents presented to the pediatric neurology clinic for evaluation and potential diagnosis of the cause of global developmental delay. The outcome of the investigations in each case demonstrate the need to follow established guidelines for appropriate genetic testing as they pertain to the patient׳s presentation rather than a single element of the history (ie, consanguinity).


Assuntos
Consanguinidade , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Testes Genéticos , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/genética , Pré-Escolar , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Testes Genéticos/métodos , Humanos , Lactente , Masculino , Síndrome de Rett/diagnóstico , Síndrome de Rett/genética
10.
J Intellect Disabil Res ; 62(5): 431-443, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29633452

RESUMO

BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder affecting between 1 in 15 000 and 1 in 24 000 individuals. The condition results in severe developmental and expressive language delays, motor impairments and a unique behavioural phenotype consisting of excessive laughter, smiling and sociability. While many studies have contributed knowledge about the causes and natural history of the syndrome, large scale longitudinal studies are required to advance research and therapeutics for this rare syndrome. METHOD: This article describes the protocol for the Global Angelman Syndrome Registry, and some initial findings. Due to the rarity of AS and the variability in symptom presentation, the registry team will strive for complete case ascertainment. Parents and caregivers will submit data to the registry via a secure internet connection. The registry consists of 10 modules that cover patient demographics; developmental, diagnostic, medical and surgical history, behaviour and development, epilepsy, medications and interventions and sleep. RESULTS: Since its launch at https://angelmanregistry.info in September 2016, almost 470 individuals with AS have been signed up to the registry worldwide: 59% are from North and South America, 23% are from Europe, 17% are from the Asia Pacific region and 1% are from the Middle East or Africa. The majority of registrants are children, with only 16% aged over 20 years. Most participants indicated a chromosome deletion (76%), with fewer participants indicating a mutation, uniparental disomy or imprinting defect (20%). CONCLUSION: Findings indicate a need to consider recruitment strategies that target caregivers of older children and adults, and parents and caregivers from non-English speaking backgrounds.


Assuntos
Síndrome de Angelman/diagnóstico , Síndrome de Angelman/terapia , Protocolos Clínicos , Sistema de Registros , Adolescente , Adulto , Síndrome de Angelman/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Internacionalidade , Masculino , Adulto Jovem
12.
Childs Nerv Syst ; 34(3): 395-400, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29350262

RESUMO

BACKGROUND: We describe three children with Angelman syndrome and medically refractory epilepsy. METHODS: Case series of three pediatric patients with Angelman syndrome and medically refractory epilepsy. All three patients failed medical treatment and were recommended for vagal nerve stimulator (VNS) implantation. RESULTS: Following VNS implantation, all three patients experienced reduction in seizure frequency greater than that afforded by medication alone. CONCLUSION: We present vagal nerve stimulator implantation as a viable treatment option for medically refractory epilepsy associated with Angelman syndrome.


Assuntos
Síndrome de Angelman/diagnóstico , Síndrome de Angelman/terapia , Epilepsia Resistente a Medicamentos/diagnóstico , Epilepsia Resistente a Medicamentos/terapia , Estimulação do Nervo Vago/métodos , Síndrome de Angelman/complicações , Criança , Pré-Escolar , Epilepsia Resistente a Medicamentos/complicações , Feminino , Humanos , Masculino , Estimulação do Nervo Vago/tendências
13.
Mol Autism ; 9: 2, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29340132

RESUMO

Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic of ongoing debate. Angelman syndrome (AS) is presented as a suitable disease model to explore this association. Methods: Data from medical records and questionnaires were used to examine the association between age of epilepsy onset, autism symptoms, genetic aberration and communication level. Forty-eight participants had genetically verified AS (median age 14.5 years; range 1-57 years). A measure of autism symptoms (the Social Communication Questionnaire; SCQ) was completed for 38 individuals aged ≥ 4 years. Genetic cause was subgrouped into deletion and other genetic aberrations of the 15q11-q13 area. The number of signs used to communicate (< 20 sign and ≥ 20 signs) was used as a measure of nonverbal communication. Results: Mean age of epilepsy onset was 3.0 years (range 3 months-7.8 years). Mean SCQ score for individuals without epilepsy was 13.6 (SD = 6.7) and with epilepsy 17.0 (SD = 5.6; p = 0.17); 58% used fewer than 20 signs to communicate. There were no age differences between groups according to presence of epilepsy, level of nonverbal communication or type of genetic aberration. SCQ scores were higher in individuals with the deletion than in those with other genetic aberrations (18.7 vs 10.8 p = 0.008) and higher in the group who used < 20 signs to communicate (19.4 vs 14.1 p = 0.007). Age of epilepsy onset was correlated with SCQ (r = - 0.61, p < 0.001). Multiple regression showed that age of seizure onset was significantly related to SCQ score (ß = - 0.90; p = 0.006), even when the type of genetic abnormality was controlled (R2 = 0.53; F = 10.7; p = 0.001). Conclusions: The study provides support for the notion that seizures themselves contribute more to autism symptoms than expected from the underlying genetic pathology alone. The study demonstrates how a rare genetic syndrome such as Angelman syndrome may be used to study the relation between epilepsy and autism symptomatology.


Assuntos
Síndrome de Angelman/diagnóstico , Transtorno Autístico/diagnóstico , Epilepsia/diagnóstico , Adolescente , Adulto , Síndrome de Angelman/complicações , Transtorno Autístico/epidemiologia , Criança , Pré-Escolar , Epilepsia/epidemiologia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade
14.
Indian J Pediatr ; 85(5): 390-391, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29250725

RESUMO

A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome. The case is aimed to sensitize pediatricians about Angelman syndrome and to highlight the role of sequential investigations in establishing the diagnosis.


Assuntos
Síndrome de Angelman/genética , Mutação , Ubiquitina-Proteína Ligases/genética , Síndrome de Angelman/diagnóstico , Criança , Cromossomos Humanos Par 15 , Éxons , Testes Genéticos , Humanos , Masculino
15.
Am J Med Genet A ; 176(5): 1099-1107, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-28944563

RESUMO

Treatment for Angelman syndrome (AS) is currently limited to symptomatic interventions. A mouse model of AS has reduced calcium/calmodulin-dependent kinase II activity due to excessive phosphorylation of specific threonine residues, leading to diminished long-term potentiation. In a rat model of Parkinson disease, levodopa reduced phosphorylation of various proteins, including calcium/calmodulin-dependent kinase II. Further studies demonstrated that AS mice treated with levodopa performed better on rotarod testing than untreated AS mice. We conducted a multi-center double-blind randomized placebo-controlled 1-year trial of levodopa / carbidopa with either 10 or 15 mg/kg/day of levodopa in children with AS. The outcome of this intervention was assessed using either the Bayley Scales of Infant Development or the Mullen Scales of Early Learning, as well as the Vineland Adaptive Behavior Scales, and the Aberrant Behavior Checklist. Of the 78 participants enrolled, 67 participants received study medication (33 on levodopa, 34 on placebo), and 55 participants (29 on levodopa, 26 on placebo) completed the 1-year study. There were no clinically or statistically significant changes in any of the outcome measures over a 1-year period comparing the levodopa and placebo groups. The number of adverse events reported, including the more serious adverse events, was similar in both groups, but none were related to treatment with levodopa. Our data demonstrate that levodopa is well-tolerated by children with AS. However, in the doses used in this study, it failed to improve their neurodevelopment or behavioral outcome.


Assuntos
Síndrome de Angelman/tratamento farmacológico , Levodopa/uso terapêutico , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/fisiopatologia , Síndrome de Angelman/psicologia , Animais , Biomarcadores , Cálcio/metabolismo , Proteína Quinase Tipo 2 Dependente de Cálcio-Calmodulina/metabolismo , Modelos Animais de Doenças , Humanos , Levodopa/administração & dosagem , Potenciação de Longa Duração , Camundongos , Testes Neuropsicológicos , Resultado do Tratamento
16.
Clin Genet ; 93(2): 293-300, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28696552

RESUMO

Single-nucleotide polymorphism (SNP)-based non-invasive prenatal testing (NIPT) can currently predict a subset of submicroscopic abnormalities associated with severe clinical manifestations. We retrospectively analyzed the performance of SNP-based NIPT in 80 449 referrals for 22q11.2 deletion syndrome and 42 326 referrals for 1p36, cri-du-chat, Prader-Willi, and Angelman microdeletion syndromes over a 1-year period, and compared the original screening protocol with a revision that reflexively sequenced high-risk calls at a higher depth of read. The prevalence of these microdeletion syndromes was also estimated in the referral population. The positive predictive value of the original test was 15.7% for 22q11.2 deletion syndrome, and 5.2% for the other 4 disorders combined. With the revised protocol, these values increased to 44.2% for 22q11.2 and 31.7% for the others. The 0.33% false-positive rate (FPR) for 22q11.2 deletion syndrome decreased to 0.07% with the revised protocol. Similarly, the FPR for the other 4 disorders combined decreased from 0.56% to 0.07%. Minimal prevalences were estimated to be 1 in 1255 for 22q11.2 deletion syndrome and 1 in 1464 for 1p36, cri-du-chat, and Angelman syndromes combined. Our results show that these microdeletions are relatively common in the referral population, and that the performance of SNP-based NIPT is improved with high-depth resequencing.


Assuntos
Síndrome de Angelman/diagnóstico , Síndrome de DiGeorge/diagnóstico , Testes Genéticos , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Adulto , Síndrome de Angelman/genética , Síndrome de Angelman/patologia , Deleção Cromossômica , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/patologia , Feminino , Feto/patologia , Humanos , Gravidez , Diagnóstico Pré-Natal/métodos , Adulto Jovem
17.
BMC Med Genet ; 18(1): 137, 2017 11 21.
Artigo em Inglês | MEDLINE | ID: mdl-29162042

RESUMO

BACKGROUND: Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region. Functional loss of UBE3A is due to 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy and genomic imprinting defects. CASE PRESENTATION: We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis. Methylation Specific-Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) of the 15q11.2-q13 region was carried out in our laboratory as the first diagnostic tool detecting two novel UBE3A intragenic deletions. Subsequently, the MLPA P336-A2 kit was used to confirm and determine the size of the UBE3A deletion in the two patients. A review of the clinical features of previously reported patients with whole UBE3A gene or partial intragenic deletions is presented here together with these two new patients. CONCLUSION: Although rare, UBE3A intragenic deletions may represent a small fraction of AS patients without a genetic diagnosis. Testing for UBE3A intragenic exonic deletions should be performed in those AS patients with a normal methylation pattern and no mutations in the UBE3A gene.


Assuntos
Síndrome de Angelman/genética , Sequência de Bases , Cromossomos Humanos Par 15 , Impressão Genômica , Deleção de Sequência , Ubiquitina-Proteína Ligases/genética , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/patologia , Pré-Escolar , Éxons , Feminino , Dosagem de Genes , Humanos , Neurônios/metabolismo , Neurônios/patologia , Técnicas de Amplificação de Ácido Nucleico , Kit de Reagentes para Diagnóstico , Ubiquitina-Proteína Ligases/deficiência
18.
Am J Obstet Gynecol ; 217(6): 691.e1-691.e6, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29032050

RESUMO

BACKGROUND: Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management. OBJECTIVE: The objective of this study was to determine the positive predictive value and false-positive rates for different chromosomal abnormalities identified by cell-free fetal DNA screening using a large data set of diagnostic testing results on invasive samples submitted to the laboratory for confirmatory studies. STUDY DESIGN: We tested 712 patient samples sent to our laboratory to confirm a cell-free fetal DNA screening result, indicating high risk for a chromosome abnormality. We compiled data from all cases in which the indication for confirmatory testing was a positive cell-free fetal DNA screen, including the common trisomies, sex chromosomal aneuploidies, microdeletion syndromes, and other large genome-wide copy number abnormalities. Testing modalities included fluorescence in situ hybridization, G-banded karyotype, and/or chromosomal microarray analysis performed on chorionic villus samples, amniotic fluid, or postnatally obtained blood samples. Positive predictive values and false-positive rates were calculated from tabulated data. RESULTS: The positive predictive values for trisomy 13, 18, and 21 were consistent with previous reports at 45%, 76%, and 84%, respectively. For the microdeletion syndrome regions, positive predictive values ranged from 0% for detection of Cri-du-Chat syndrome and Prader-Willi/Angelman syndrome to 14% for 1p36 deletion syndrome and 21% for 22q11.2 deletion syndrome. Detection of sex chromosomal aneuploidies had positive predictive values of 26% for monosomy X, 50% for 47,XXX, and 86% for 47,XXY. CONCLUSION: The positive predictive values for detection of common autosomal and sex chromosomal aneuploidies by cell-free fetal DNA screening were comparable with other studies. Identification of microdeletions was associated with lower positive predictive values and higher false-positive rates, likely because of the low prevalence of the individual targeted microdeletion syndromes in the general population. Although the obtained positive predictive values compare favorably with those seen in traditional screening approaches for common aneuploidies, they highlight the importance of educating clinicians and patients on the limitations of cell-free fetal DNA screening tests. Improvement of the cell-free fetal DNA screening technology and continued monitoring of its performance after introduction into clinical practice will be important to fully establish its clinical utility. Nonetheless, our data provide valuable information that may aid result interpretation, patient counseling, and clinical decision making/management.


Assuntos
Ácidos Nucleicos Livres/sangue , Transtornos Cromossômicos/sangue , Amniocentese , Síndrome de Angelman/sangue , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/genética , Amostra da Vilosidade Coriônica , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos Humanos X/genética , Síndrome do Miado do Gato/sangue , Síndrome do Miado do Gato/diagnóstico , Síndrome do Miado do Gato/genética , Síndrome de Down/sangue , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Síndrome de Klinefelter/sangue , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/genética , Análise em Microsséries , Síndrome de Prader-Willi/sangue , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genética , Valor Preditivo dos Testes , Gravidez , Diagnóstico Pré-Natal , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/sangue , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/diagnóstico , Trissomia/genética , Síndrome da Trissomia do Cromossomo 13/sangue , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/sangue , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética , Síndrome de Turner/sangue , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética
19.
Neonatal Netw ; 36(3): 142-151, 2017 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-28494826

RESUMO

Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 individuals. It is caused by various genetic mutations and deletions of the maternally-inherited UBE3A gene, on the 15q11-13 chromosomal region. The UBE3A gene, which encodes E3 ubiquitin ligase, shows tissue-specific imprinting, being expressed entirely from the maternal allele.The diagnosis of AS is confirmed either by methylation test or by mutation analysis. A more severe clinical picture is linked with the deletion phenotype.Patients with AS have a behavioral and motor pattern defined as "happy puppet" because it is characterized by puppet-like ataxic jerky movements; a happy, sociable disposition; and paroxysms of laughter. There is currently no cure for AS, and management is mainly symptomatic. Novel therapeutic options are directed toward the possibility of activating the silenced paternal copy of the UBE3A gene.


Assuntos
Síndrome de Angelman/diagnóstico , Síndrome de Angelman/terapia , Enfermagem Neonatal/métodos , Síndrome de Angelman/genética , Diagnóstico Diferencial , Aconselhamento Genético , Testes Genéticos , Impressão Genômica , Humanos , Recém-Nascido , Mutação , Fenótipo , Prognóstico
20.
Am J Speech Lang Pathol ; 26(2): 369-382, 2017 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-28384804

RESUMO

Purpose: This study explores data on expressive communication skills of 300 individuals aged 0.0-21.11 years with Angelman syndrome (AS). These data provide a composite portrait of communication skills in a large sample of children and young adults with this rare disorder, specifying new detailed information about expressive communication. Method: The database associated with the Communication Matrix assessment (Rowland, 2004, 2011; Rowland & Fried-Oken, 2010) was mined for data regarding individuals with AS. We extracted data on the reasons for communicating, level of communication achieved, and use of various expressive communication modes to convey 24 specific messages. The performance of children and young adults in 5 age groups in the cross-sectional sample were contrasted. Results: Results confirmed earlier studies showing that few individuals with AS use natural speech. However, in addition to using presymbolic modes, many children used alternative symbolic modes such as picture symbols, object symbols, and manual signs. Assessment scores increased slightly with age, F(4, 295) = 2.416, p = .049. Conclusions: Aggregating data on a large sample of individuals with AS provides a reference point for practitioners and family members and a basis for future investigations.


Assuntos
Síndrome de Angelman/diagnóstico , Transtorno de Comunicação Social/diagnóstico , Adolescente , Síndrome de Angelman/reabilitação , Criança , Auxiliares de Comunicação para Pessoas com Deficiência , Métodos de Comunicação Total , Estudos Transversais , Feminino , Humanos , Masculino , Comunicação Manual , Fatores de Risco , Transtorno de Comunicação Social/reabilitação , Simbolismo , Adulto Jovem
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