RESUMEN
OBJECTIVE: To substantiate the use of photochromotherapy (narrow-band optical radiation with an average wavelength of 650 nm) in the complex treatment of children with developmental speech delay on the type of general speech underdevelopment (GSU) of I and II degree. MATERIAL AND METHODS: A number of children equal 70 aged from 4 to 6 years with developmental speech delay were examined. All patients were randomized into 2 clinically comparable groups: the 1st (study) group included 35 patients who received medical treatment in accordance with clinical recommendations in combination with the use of narrow-band optical radiation with an average wavelength of 650nm for 10 days; the 2nd (comparison) group consisted of 35 subjects who received standard drug therapy according to the established clinical recommendations. All patients underwent a comprehensive clinical examination and a special neurological investigation, including electroencephalography and electromyography, as well as an assessment of the development of speech functions and dynamic coordination of gesture, the level of social and communication skills development and neuropsychological processes. RESULTS: The following data were obtained during the complex treatment with the inclusion of narrow-band optical radiation with an average wavelength of 650 nm (red radiation): statistically significant improvement of speech development (p<0.05); improvement of values of social adaptation skills of medium (71%) (Z=2.769; p=006) and low level (29%) (Z=2.691; p=0.007); significant positive dynamics of speech status (Z=3.911; p=0.000); spontaneous activity relief at rest, indicating normalization of muscle tone. CONCLUSION: The inclusion of photochromotherapy in standard therapeutic regimens for children with developmental speech delay on the GSU type of I, II degrees contributes to a significantly confirmed pronounced clinical improvement and can be recommended for practical health care.
Asunto(s)
Trastornos del Desarrollo del Lenguaje , Habla , Niño , HumanosRESUMEN
We report here two brothers with an intellectual disability (ID), dysmorphic features, speech delay, and congenital hypotonia, with chromosomal microarray confirmed. However, two different de novo chromosomal aberrations; unbalanced translocations (13;18) (q34,q23) were found in the elder boys and de novo 6q25 deletion in the second boy. The boy with 13q34 microdeletion and 18q23 microduplication suffered from ID, obesity, dysmorphic features, speech delay, and seizure while the one with 6q25 deletion presented with ID and speech delay. Both parents were tested and were normal. The third child had mild hypotonia at infancy, which improved later. Whole-exome sequencing (WES) showed the three boys carried a likely benign variant in MED12, inherited from the healthy, asymptomatic mother. The father suffered from rheumatoid arthritis and was on chemotherapy during the conception of the first two affected boys. This report places emphasis on the use of a chromosomal microarray in patients with ID, even with familial cases, and reports the paternal use of methotrexate.