Biomedical subjects

Dagma Venturini Marques Abramides

Publications and source records attributed to Dagma Venturini Marques Abramides.

3 recordsLinked to original sources

PubMed2006

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.

Adolescent↗

PubMedDate not supplied

[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. RESULTS: Subject I - normal; subject II - impaired. CONCLUSION: There is a growing need for more investigations of the neurophysiology of the auditory system in this population. Studies in the area of hearing can favor the early diagnosis and therefore the intervention process.

Adolescent↗

PubMedDate not supplied

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. RESULTS: Cardiac, cutaneous, and craniofacial alterations were observed, as well as cognitive deficits and significant language impairment with the absence of oral speech. CONCLUSION: The importance of assessing these patients is highlighted, for diagnostic and intervention purposes, so that the work developed in the speech and language therapy can be better directed.

Abnormalities, Multiple↗