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Cognitive Speech Delay

Samir Dalwai, Elyska DeSa, Deepti Kanade Modak, Ameya Bondre
BACKGROUND: DiGeorge syndrome involves deletion of chromosomal region 22q11.2. CASE CHARACTERISTICS: 3-year-old girl presenting with speech delay showed defiant behaviour and sensory concerns. OUTCOME: Multidisciplinary intervention with parental counselling improved communication and social skills. MESSAGE: Cognitive and behavioral issues in DiGeorge syndrome should be addressed through timely, multidisciplinary intervention...
September 8, 2016: Indian Pediatrics
Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim, Hyung-Goo Kim
BACKGROUND: 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysmorphism, microcephaly, cardiac abnormalities, and cataracts. MECP2 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by intellectual disability, global developmental delay, and other neurological complications including late-onset seizures...
2016: Molecular Cytogenetics
Matthew Winn
People with hearing impairment are thought to rely heavily on context to compensate for reduced audibility. Here, we explore the resulting cost of this compensatory behavior, in terms of effort and the efficiency of ongoing predictive language processing. The listening task featured predictable or unpredictable sentences, and participants included people with cochlear implants as well as people with normal hearing who heard full-spectrum/unprocessed or vocoded speech. The crucial metric was the growth of the pupillary response and the reduction of this response for predictable versus unpredictable sentences, which would suggest reduced cognitive load resulting from predictive processing...
October 3, 2016: Trends in Hearing
Fabio Acquaviva, Maria Elena Sana, Matteo Della Monica, Michele Pinelli, Diana Postorivo, Paolo Fontana, Maria Teresa Falco, Anna Maria Nardone, Fortunato Lonardo, Maria Iascone, Gioacchino Scarano
Smith-Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multiple genes, including the retinoic acid induced 1 gene-RAI1-or mutations in RAI1 itself. The clinical spectrum includes developmental delay, cognitive impairment, and behavioral abnormalities, with distinctive physical features that become more evident with age. No patients have been reported to have had offspring. We here describe a girl with developmental delay, mainly compromising the speech area, and her mother with mild intellectual disabilities and minor dysmorphic features...
September 28, 2016: American Journal of Medical Genetics. Part A
Hanan E Shamseldin, Ikuo Masuho, Ahmed Alenizi, Suad Alyamani, Dipak N Patil, Niema Ibrahim, Kirill A Martemyanov, Fowzan S Alkuraya
BACKGROUND: Neuropsychiatric disorders are common forms of disability in humans. Despite recent progress in deciphering the genetics of these disorders, their phenotypic complexity continues to be a major challenge. Mendelian neuropsychiatric disorders are rare but their study has the potential to unravel novel mechanisms that are relevant to their complex counterparts. RESULTS: In an extended consanguineous family, we identified a novel neuropsychiatric phenotype characterized by severe speech impairment, variable expressivity of attention deficit hyperactivity disorder (ADHD), and motor delay...
September 27, 2016: Genome Biology
Mathilde Chevignard, Leila Francillette, Hanna Toure, Dominique Brugel, Philippe Meyer, Anne Laurent Vannier, Marion Opatowski, Laurence Watier
OBJECTIVE: Childhood traumatic brain injury (TBI) is the first cause of death and acquired disability and it represents a major public health issue. Childhood severe TBI can lead to motor, cognitive, behavioural and social cognition deficits, which have consequences on academic achievement, social integration, participation and quality of life. Consequences may only appear after a delay, when the skills are supposed to be fully developed. The aim of this study was to prospectively assess academic outcome, health-related quality of life (HRQoL), amount of ongoing care and participation, following childhood severe traumatic brain injury (TBI) over 7-8years post-injury, in comparison with a matched uninjured control group...
September 2016: Annals of Physical and Rehabilitation Medicine
Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton-Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Kathryn Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury-Ecob, Fiona Stewart, Peter Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, Sarah Smithson
KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat-containing cofactors. We describe 32 KBG patients aged 2-47 years from 27 families ascertained via two pathways: targeted ANKRD11 sequencing (TS) in a group who had a clinical diagnosis of KBG and whole exome sequencing (ES) in a second group in whom the diagnosis was unknown. Speech delay and learning difficulties were almost universal and variable behavioral problems frequent...
November 2016: American Journal of Medical Genetics. Part A
Gerasimos Kolaitis, Christian G Bouwkamp, Alexia Papakonstantinou, Ioanna Otheiti, Maria Belivanaki, Styliani Haritaki, Terpsihori Korpa, Zinovia Albani, Elena Terzioglou, Polyxeni Apostola, Aggeliki Skamnaki, Athena Xaidara, Konstantina Kosma, Sophia Kitsiou-Tzeli, Maria Tzetis
BACKGROUND: This is a case with multiple chromosomal aberrations which are likely etiological for the observed psychiatric phenotype consisting of attention deficit hyperactivity and conduct disorders. CASE PRESENTATION: We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory. A cytogenetic analysis and high-resolution microarray comparative genomic hybridization (CGH) analysis was performed...
2016: Child and Adolescent Psychiatry and Mental Health
Elham Abbas, Devin M Cox, Teri Smith, Merlin G Butler
We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11...
September 2016: Journal of Pediatric Genetics
Beth A Earhart, Marian E Williams, Irina Zamora, Linda Marie Randolph, Jodie K Votava-Smith, Stephanie N Marcy
Duplication 7q11.23 syndrome is the reciprocal of Williams-Beuren deletion syndrome. Studies have reported a recognizable phenotype, including autism, intellectual disability, speech, and language delay, social anxiety, and behavioral difficulties in these individuals. Previous studies revealed a variety of craniofacial abnormalities, brain malformations, and cardiac abnormalities, including aortic dilation. This patient series evaluates five family members aged 2 months to 35 years, all with confirmed 7q11...
September 12, 2016: American Journal of Medical Genetics. Part A
Tanya N Antonini, William J Dreyer, Susan E Caudle
Cardiac defects represent the most common type of birth defect and children with these abnormalities are known to experience a variety of developmental and neuropsychological delays. Children receiving heart transplants may be at the highest risk for delays as they tend to represent the most severely ill patients with heart disease. This study investigates neurocognitive and adaptive functioning in 20 children under 2 years of age who were undergoing evaluation for heart transplant, comparing their performance to that of normative samples...
August 31, 2016: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
Miriam S Reuter, Angelika Riess, Ute Moog, Tracy A Briggs, Kate E Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier
BACKGROUND: Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting FOXP2 have been reported. Intragenic deletions or convincingly pathogenic point mutations in FOXP2 have up to date only been reported in three families. We thus aimed at a further characterisation of the mutational and clinical spectrum. METHODS: Chromosomal microarray testing, trio exome sequencing, multigene panel sequencing and targeted sequencing of FOXP2 were performed in individuals with variable developmental disorders, and speech and language deficits...
August 29, 2016: Journal of Medical Genetics
Andrea R Plotkowski, Joshua M Alexander
BACKGROUND: Listening in challenging situations requires explicit cognitive resources to decode and process speech. Traditional speech recognition tests are limited in documenting this cognitive effort, which may differ greatly between individuals or listening conditions despite similar scores. A sequential sentence paradigm was designed to be more sensitive to individual differences in demands on verbal processing during speech recognition. PURPOSE: The purpose of this study was to establish the feasibility, validity, and equivalency of test materials in the sequential sentence paradigm as well as to evaluate the effects of masker type, signal-to-noise ratio (SNR), and working memory (WM) capacity on performance in the task...
September 2016: Journal of the American Academy of Audiology
Nicole E Neef, Christoph Bütfering, Alfred Anwander, Angela D Friederici, Walter Paulus, Martin Sommer
Area 44 is a cytoarchitectonically distinct portion of Broca's region. Parallel and overlapping large-scale networks couple with this region thereby orchestrating heterogeneous language, cognitive, and motor functions. In the context of stuttering, area 44 frequently comes into focus because structural and physiological irregularities affect developmental trajectories, stuttering severity, persistency, and etiology. A remarkable phenomenon accompanying stuttering is the preserved ability to sing. Speaking and singing are connatural behaviours recruiting largely overlapping brain networks including left and right area 44...
August 16, 2016: NeuroImage
Elisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A Nannenberg, Lamiae Boualla, Nico A Blom, Wim de Graaff, Maarten Kamermans, Dario Cocciadiferro, Natascia Malerba, Barbara Mandriani, Zeynep Hande Coban Akdemir, Richard J Fish, Mohammad K Eldomery, Ilham Ratbi, Arthur A M Wilde, Teun de Boer, William F Simonds, Marguerite Neerman-Arbez, V Reid Sutton, Fernando Kok, James R Lupski, Alexandre Reymond, Connie R Bezzina, Jeroen Bakkers, Giuseppe Merla
GNB5 encodes the G protein β subunit 5 and is involved in inhibitory G protein signaling. Here, we report mutations in GNB5 that are associated with heart-rate disturbance, eye disease, intellectual disability, gastric problems, hypotonia, and seizures in nine individuals from six families. We observed an association between the nature of the variants and clinical severity; individuals with loss-of-function alleles had more severe symptoms, including substantial developmental delay, speech defects, severe hypotonia, pathological gastro-esophageal reflux, retinal disease, and sinus-node dysfunction, whereas related heterozygotes harboring missense variants presented with a clinically milder phenotype...
September 1, 2016: American Journal of Human Genetics
Luigi Laino, Irene Bottillo, Caterina Piedimonte, Laura Bernardini, Barbara Torres, Barbara Grammatico, Simone Bargiacchi, Claudia Mulargia, Mauro Calvani, Francesco Cardona, Marco Castori, Paola Grammatico
X-linked intellectual disability accounts for 10-12% of cases of cognitive impairment in males. Mutations in IL1RAPL1 are an emerging form of apparently non-syndromic X-linked intellectual disability. We report a 8-year-old intellectually disabled boy with speech delay, and unusual facial and digital anomalies who showed a novel and complex IL1RAPL1 rearrangement. It was defined by two intragenic non-contiguous duplications inherited from the unaffected mother. Chromosome X inactivation study on the mother's blood leukocytes, urinary sediment and buccal swab did not show a significant skewed inactivation...
November 2016: European Journal of Paediatric Neurology: EJPN
A Tessa, R Battini, A Rubegni, E Storti, C Marini, D Galatolo, R Pasquariello, F M Santorelli
BACKGROUND AND PURPOSE: The term hereditary spastic paraplegia (HSP) covers a spectrum of genetically heterogeneous disorders in which lower limb spasticity is the common clinical feature. Many patients with childhood-onset HSP are mistakenly diagnosed with cerebral palsy (CP). METHODS: A group of as yet molecularly undiagnosed HSP patients were analyzed using SpastoPlex, a customized target re-sequencing panel able to investigate the coding regions of 72 genes linked to HSP, spastic ataxias or related motor diseases...
October 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Cara H Cashon, Oh-Ryeong Ha, Katharine Graf Estes, Jenny R Saffran, Carolyn B Mervis
Williams syndrome (WS) is a rare genetic disorder associated with delays in language and cognitive development. The reasons for the language delay are unknown. Statistical learning is a domain-general mechanism recruited for early language acquisition. In the present study, we investigated whether infants with WS were able to detect the statistical structure in continuous speech. Eighteen 8- to 20-month-olds with WS were familiarized with 2min of a continuous stream of synthesized nonsense words; the statistical structure of the speech was the only cue to word boundaries...
September 2016: Cognition
Odoardo Picciolini, Matteo Porro, Elisa Cattaneo, Silvia Castelletti, Giuseppe Masera, Fabio Mosca, Maria Francesca Bedeschi
BACKGROUND: Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS...
2016: Italian Journal of Pediatrics
Helena Rocha, Mafalda Sampaio, Ruben Rocha, Susana Fernandes, Miguel Leão
INTRODUCTION: MEF2C haploinsufficiency syndrome is characterized by severe intellectual disability, epilepsy, stereotypic movements, minor dysmorphisms and brain abnormalities. We report the case of a patient with a new MEF2C mutation, comparing his clinical and imaging features to those previously reported in the literature. CASE REPORT: A 10 year-old boy first came to pediatric neurology clinic at the age of 11 months because of severe psychomotor delay, without regression...
September 2016: European Journal of Medical Genetics
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