Results 11 to 20 of about 407 (59)

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment. [PDF]

Neurotherapeutics
: While loss-of-function (LoF) variants in KCNQ2 are associated with a spectrum of neonatal-onset epilepsies, gain-of-function (GoF) variants cause a more complex phenotype that precludes neonatal-onset epilepsy.
Bayat A, Iavarone S, Miceli F, Jakobsen AV, Johannesen KM, Nikanorova M, Ploski R, Szymanska K, Flamini R, Cooper EC, Weckhuysen S, Taglialatela M, Møller RS.   +12 more
europepmc   +5 more sources

Clinical use of the Insight Inventory in cerebral visual impairment and the effectiveness of tailored habilitational strategies

Developmental Medicine &Child Neurology, Volume 62, Issue 11, Page 1324-1330, November 2020., 2020
Aim To investigate the utility of the Insight Inventory (a structured clinical inventory completed by caregivers) for assessment of children with cerebral visual impairment; and to investigate effectiveness of tailored habilitational strategies derived from the responses to the Insight Inventory. Method Fifty‐one eligible children (26 males, 25 females;
Asimina Tsirka, Alki Liasis, Adam Kuczynski, Faraneh Vargha‐Khadem, Roopen Kukadia, Gordon Dutton, Richard Bowman   +6 more
wiley   +1 more source

Phonological and articulation treatment approaches in Portuguese children with speech and language impairments: a randomized controlled intervention study [PDF]

, 2013
Background In Portugal, the routine clinical practice of speech and language therapists (SLTs) in treating children with all types of speech sound disorder (SSD) continues to be articulation therapy (AT). There is limited use of phonological therapy (PT)
Baker, Baker, Baker, Baker, Beers, Bernthal, Berry, Bird, Bortolini, Botting, Braun, Catts, Catts, Clark-Carter, Cohen, Crosbie, Dodd, Gillon, Gillon, Gillon, Gillon, Gillon, Hesketh, Hodson, Howell, Huckvale, Ingram, Joffe, Joffe, Joffe, Kay, Kinnear, Klein, Lancaster, Leonard, Lousada, McLeod, Mediavilla, Mendes, Orsolini, Pamplona, Resnick, Roberts, Rvachew, Rvachew, Seabra-Santos, Shriberg, Shriberg, Smit, Snowling, Stothard, Teutsch, Tyler, Van Riper, Van Riper, Warren, Wechsler, Weiner, Wells   +58 more
core   +2 more sources

Utilização de testes para avaliar crianças dos 0 aos 7 anos: Resultados de um inquérito a psicólogos portugueses [PDF]

, 2021
Sendo a avaliação psicológica e o recurso a testes atividades identitárias dos psicólogos, estudos nacionais e internacionais têm destacado um menor investimento quando se trata de avaliar crianças nos primeiros anos de vida.
Almeida, Leandro S., Almiro, Pedro Armelim, Seabra-Santos, Maria João, Simões, Mário R.   +3 more
core   +1 more source

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

Developmental Medicine &Child Neurology, Volume 60, Issue 6, Page 579-586, June 2018., 2018
Aim To examine the long‐term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy. Method Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic infantile Pompe patients aged up to 17 years.
Berendine J Ebbink, Esther Poelman, Femke K Aarsen, Iris Plug, Luc Régal, Carsten Muentjes, Nadine A M E van der Beek, Maarten H Lequin, Ans T van der Ploeg, Johanna M P van den Hout   +9 more
wiley   +1 more source

The Melbourne Assessment of Schizotypy in Kids: A Useful Measure of Childhood Schizotypal Personality Disorder

BioMed Research International, Volume 2015, Issue 1, 2015., 2015
Despite being identified as a high risk cohort for psychosis, there has been relatively little research on the clinical presentation and assessment of Schizotypal Personality Disorder (SPD) in childhood. The current study aimed to develop a measure of childhood SPD (Melbourne Assessment of Schizotypy in Kids (MASK)) and assess discriminant validity ...
Harvey P. Jones, Renee R. Testa, Nola Ross, Marc L. Seal, Christos Pantelis, Bruce Tonge, Reinhold Schmidt   +6 more
wiley   +1 more source

Instrumentos de avaliação [PDF]

, 2000
Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de PsiquiatriaUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Grupo Interdepartamental de Epidemiologia ClínicaUNIFESP, EPM, Depto.
Bordin, Isabel Altenfelder Santos, Duarte, Cristiane Seixas   +1 more
core   +3 more sources

Characterization of the linguistic profile of a family with Perisylvian Syndrome [PDF]

, 2005
BACKGROUND: perisylvian syndrome refers to a variety of clinical manifestations associated to lesions in the perisylvian or opercular regions. Polymicrogyria is the most common structural malformation found. The syndrome may be inherited and the clinical
Brandão-almeida, Iara Lêda, Cendes, Fernando, Guerreiro, Marilisa Mantovani, Guimarães, Catarina Abraão, Hage, Simone Rocha De Vasconcellos, Montenegro, Maria Augusta, Oliveira, Ecila Paula Dos Mesquita De   +6 more
core   +3 more sources

Intelligibility as a clinical outcome measure following intervention with children with phonologically based speech-sound disorders [PDF]

, 2014
The effectiveness of two treatment approaches (phonological therapy and articulation therapy) for treatment of 14 children, aged 4;0-6;7 years, with phonologically based speech-sound disorder (SSD) has been previously analysed with severity outcome ...
Hall, A., Jesus, L. M., Joffe, V., Lousada, M.   +3 more
core   +1 more source

Análise do desempenho de crianças em risco ambiental na WPPSI-R [PDF]

, 2000
[Resumo] Regista-se, actualmente, um interesse crescente em relação ao risco ambiental, isto é, em relacção crianças em cuja história pessoal e familiar se encontram ambientes familiares alterados ou problemas sociais graves.
Albuquerque, Cristina Petrucci, Lança, Carla, Pereira, Marcelino, Santos, Maria João Seabra, Simões, Mário Rodrigues   +4 more
core   +11 more sources