Receptive language and intellectual abilities in preterm children.

Objective: The aim of this study was to examine the association between receptive vocabulary performance and intellectual quotient (IQ) in preterm born children compared to children born at term.

Method: A total of 72 preschool-age children participated in the study. Participants were divided in four groups: EG-I, including 20 moderate to late preterm born children; EG-II, comprehending 16 extremely preterm born children; CG-I and CG-II with correspondingly 20 and 16 children born at term.

Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. We conducted a study to examine the molecular biology, brain abnormalities, and cognitive development of individuals with these syndromes. A retrospective longitudinal review of 14 patients with Apert and Crouzon syndromes seen at the outpatient Craniofacial Surgery Hospital for Rehabilitation of Craniofacial Anomalies in Brazil from January 1999 through August 2010 was performed.

Orofacial functions and quality of life in oral health in subjects with dentofacial deformity.

Purpose: To investigate the influence of the facial pattern in orofacial functions (OFFs) and quality of life (QoL), and their relationship in individuals with dentofacial deformities (DFD).

Methods: As approved by the Research Ethics Committee, 36 subjects, aged between 18 and 40 years, divided into three groups of seven female and five male participants, i.e.

Communication skills in individuals with spastic diplegia.

Purpose: To assess communication skills in children with spastic diplegia.

Methods: The study included 20 subjects, 10 preschool children with spastic diplegia and 10 typical matched according to gender, mental age, and socioeconomic status. Assessment procedures were the following: interviews with parents, Stanford - Binet method, Gross Motor Function Classification System, Observing the Communicative Behavior, Vocabulary Test by Peabody Picture, Denver Developmental Screening Test II, MacArthur Development Inventory on Communicative Skills.

[Fragile X syndrome with Dandy-Walker variant: a clinical study of oral and written communicative manifestations].

The Fragile X syndrome is the most frequent cause of inherited intellectual disability. The Dandy-Walker variant is a specific constellation of neuroradiological findings. The present study reports oral and written communication findings in a 15-year-old boy with clinical and molecular diagnosis of Fragile X syndrome and neuroimaging findings consistent with Dandy-Walker variant.

Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case.

Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or cessation of the sound precludes the flow of speech. About 5% of individuals in the general population have a stuttering problem, and about 80% of the affected children recover naturally.

Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

Objective: To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome.

Design: Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction-amplified coding region of the TWIST1 gene, routine and electrophysiological hearing evaluation, speech evaluation, and imaging studies through computed tomography (CT) scan and magnetic resonance imaging (MRI) were performed.

Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child.

We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a "new" unique pattern MCA/MR syndrome.

A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities.

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance.

[Crouzon syndrome: factors related to the neuropsychological development and to the quality of life].

Crouzon syndrome is characterized by cranial and facial abnormalities and exophtalmos. Mental retardation is sometimes observed. The objective of this study was to correlate brain malformations, timing for surgery and also social classification of families and parents education to the neuropsychological evaluation and to the quality of life of these families.

Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.

Velocardiofacial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients present hemizygous deletions on part of chromosome 22q11.2; suggestive that haploinsufficiency in this region is responsible for this etiology.

[Macrosomia and auditory abilities: a comparative study].

Background: Macrosomia is the positive deviation of normal growing standards.

Aim: Due to the lack of studies related to the auditory abilities in macrosomic syndromes, the aim of the present study was to verify and compare the auditory abilities of two patients and to correlate these results with other complementary findings.

Method: Anamneses, hearing, language, psychologic and neuroimage evaluation in two female subjects, eight and seventeen years old.

Specific language impairment: linguistic and neurobiological aspects.

Specific language impairment (SLI) occurs when children present language maturation, at least 12 months behind their chronological age in the absence of sensory or intellectual deficits, pervasive developmental disorders, evident cerebral damage, and adequate social and emotional conditions. The aim of this study was to classify a group of children according to the subtypes of SLI and to correlate clinical manifestations with cortical abnormalities. Seventeen children with SLI were evaluated.

Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype.

Here, we evaluate linguistic skills and neuropsychological performance in a sample of patients with SHH mutations and a holoprosencephaly (HPE)-like phenotype, a minor form of classic HPE. Our findings suggest that patients with SHH mutations and a HPE-like phenotype have normal cognitive ratios and significant language impairment. Imaging evaluation by magnetic resonance imaging (MRI) was normal in three patients and in one there was hypoplasia of the anterior commissure and the presence of a temporal cyst, apparently not related to the clinical findings.

Speech-language and hearing findings in the cardio-facial-cutaneous syndrome.

Background: Cardio-facial-cutaneous syndrome.

Aim: To describe the clinical findings of a patient with cardio-facial-cutaneous syndrome and to characterize her communication.

Method: To investigate the following areas: genetic, speech-language and hearing, otolaryngological, and psychological.