Search results for " developmental delay"

showing 4 items of 14 documents

Malformations of central nervous system: General issues

2013

Malformations of the central nervous system (CNS) encompass a heterogeneous group of congenital anomalies that may be isolated or appear as part of a genetic syndrome. Advances in identifying the genetic etiology underlying many CNS malformation and syndromes have led to the current genetic-based classifications that allows us to better estimate prognosis and potential complications. Herein, we discuss the main genetic, clinical and radiological features and their implications for diagnostic testing and disease management

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/31 - OtorinolaringoiatriaCNS malformations genetic investigations developmental delay.
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12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…

dysmorphismsComparative Genomic Hybridization12q21 deletiongenetic counselingcopy number variants (CNVs)DNA Copy Number Variationscongenital anomaliesarray-CGH; 12q21 deletion; copy number variants (CNVs); variation intolerant genes; loss of function; developmental delay/intellectual disability (DD/ID); congenital anomalies; dysmorphisms; genetic counseling; patient management12q21 deletion array-CGH congenital anomalies copy number variants (CNVs) developmental delay/intellectual disability (DD/ID) dysmorphisms genetic counseling loss of function patient management variation intolerant genesdevelopmental delay/intellectual disability (DD/ID)variation intolerant genesloss of functionSettore MED/03 - Genetica MedicaChromosome Structuresarray-CGHIntellectual DisabilityGeneticsHumansChromosome Deletionpatient managementGenetics (clinical)Genes
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The world of twins: an update

2010

In last years, owing to the widespread availability of assisted-reproduction technology, multiple pregnancy rates in Western countries have increased. In twin pregnancies, an increased rate of gestational complications, intrauterine growth restriction (IUGR), preterm birth and severe perinatal conditions is present. These complications are more frequent in monozygotic twins compared to dizygotic twins as well as an increased relative risk of chromosomal abnormalities and congenital malformation. Monochorionic twins are at higher risk for complications, since they share a common placenta where an imbalance in unidirectional arteriovenous anastomoses can lead to twin#x2013;twin transfusion sy…

medicine.medical_specialtyTwinsIntrauterine growth restrictionInfant Newborn DiseasesCongenital AbnormalitiesTwins monozygotic dizygotic twin–twin transfusion syndrome selective intrauterine growth restriction developmental delaySettore MED/38 - Pediatria Generale E SpecialisticaPregnancyPlacentaDiseases in TwinsHumansMedicineChromosome AberrationsPregnancyFetusbusiness.industryObstetricsMortality rateInfant NewbornObstetrics and Gynecologymedicine.diseasemedicine.anatomical_structureRelative riskPediatrics Perinatology and Child HealthGestationFemaleMonochorionic twinsPregnancy MultiplebusinessThe Journal of Maternal-Fetal & Neonatal Medicine
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Intellectual disabilitiy in developmental age

2015

Intellectual disability (ID) is a neurodevelopmental dis- order characterized by deficits in intellectual and adap- tive functioning that present before 18 years of age [1]. ID is heterogeneous in etiology and encompasses a broad spectrum of functioning, disability, needs and strengths. Originally formulated in strictly psychometric terms as performance greater than 2.5 SDs below the mean on intelligence testing, the conceptualisation of ID has been extended to include defects in adaptive beha- viours [2]. The term-global developmental delay-(GDD) is usually used to describe children younger than 5-years of age who fail to meet expected developmental milestones in multiple areas of intellec…

medicine.medical_specialtyeducation.field_of_studybusiness.industryIntellectual disability neurodevelopmental disorders global developmental delayPopulationGeneticistmedicine.diseaseSettore MED/38 - Pediatria Generale E SpecialisticaBorderline intellectual functioningNeurodevelopmental disorderSettore MED/03 - Genetica MedicaMeeting AbstractIntellectual disabilityDevelopmental MilestonemedicineAutismMedical historyPsychiatryeducationbusinessItalian Journal of Pediatrics
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