Are sex chromosone abnormalities a factor in speech delay?
نویسندگان
چکیده
suspected that intestinal ileus may also be associated with hypothermia. After rewarming to 37°C and in the presence of normal electrolytes, glucose, and acid/base status, the infant developed abdominal distension and bilious vomiting at 48 hours. At an exploratory operation the whole alimentary tract from stomach to sigmoid was found to be distended and no peristalsis was seen. After decompression and intravenous alimentation the ileus recovered in 72 hours. We do not know whether this was due to a temporary neuromuscular abnormality or disturbance of some other metabolic parameter of which we were unaware, but we believe the ileus and hypothermia to be causally linked. The relation between environmental temperature and oxygen consumption in the newborn baby. reported that sex chromosome anomalies have a role in the aetiology of speech delay. We studied 21 patients (13 boys and 8 girls) with speech delay after eliminating mental retardation, hearing defects, and other well-known causes of delayed speech. Ages varied between 3 and 9 years and most children were between 5 and 7. In each patient we analysed a pedigree, buccal smear, peripheral blood chromosomes, and amino-acids. The Peabody picture vocabulary test was generally used as the psychological test, and in patients in whom the intelligence level was uncertain, the Goodenough and LM form of Stanford Binet tests were additionally given. Each patient also had a hearing test. Our study population was similar to that of Garvey and Mutton (1973). Although the number of cases was larger in our study we could not find any minor or major chromosomal abnormalities. The studies which investigated the early development of children with sex chromo-showed that the language development of these children was usually within normal limits, but was slightly retarded compared with their normal siblings or controls. There are no similar reports on the analysis of amino-acids. In our series no amino-acid abnormality was found; however, we knew that the chance of finding a very rare metabolic disease, such as histidinaemia, in a series of 21 patients was slight. The results of our study show that sex chromosome aberrations are not an important cause of delayed speech. It is obvious that similar studies with more patients are needed. Follow-up till age 3-4 of unselected children with sex chromosome abnormalities.
منابع مشابه
Auditory Brainstem Response Wave Amplitude Characteristics as a Diagnostic Tool in Children with Speech Delay with Unknown Causes
Speech delay with an unknown cause is a problem among children. This diagnosis is the last differential diagnosis after observing normal findings in routine hearing tests. The present study was undertaken to determine whether auditory brainstem responses to click stimuli are different between normally developing children and children suffering from delayed speech with unknown causes. In this cr...
متن کاملA Case of Bardet-Biedl Syndrome
Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...
متن کاملChromosomal Abnormalities in Iranian Infertile Males who are Candidates for Assisted Reproductive Techniques
Background The present study offers our contribution on the topic by a retrospective analysis of the prevalence of chromosomal abnormalities in a population of Iranian infertile men attending assisted reproduction programs. MaterialsAndMethods Cytogenetic analysis was performed according to standard methods on cultured cells obtained from the patient peripheral blood. In all, 874 files belongin...
متن کاملSpeech difficulties in Joubert syndrome
Introduction: "Joubert syndrome" was first introduced in1969. This syndrome is a rare genetic disease with autosomal dominantpattern. Hypotonia, ataxia and motor delay of the disease known as clinical manifestations. In the few reports of this syndrome, mostly functional and structural components studied and radiographic images such as speech and language developmental delay symptoms has been l...
متن کاملA 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.
We report a child with a 785kb deletion of the 3p14.1p13 region including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis. FOXP1 and FOXP2 are transcription factors containing a polyglutamine tract and a forkhead DNA binding domain. They both play a role in the developing human foregut and brain [W. Shu, M.M. Lu, Y. Zhang, P. Tucker...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 53 10 شماره
صفحات -
تاریخ انتشار 1978