Patients with galactosemia who carry the S135L (c.404C > T) variant of galactose-1-P uridylyltransferase (GALT), documented to encode low-level residual GALT activity, have been under-represented in most prior studies of outcomes in Type 1 galactosemia. What is known about the acute and long-term outcomes of these patients, therefore, is based on very limited data. Here, we present a study comparing acute and long-term outcomes of 12 patients homozygous for S135L, 25 patients compound heterozygous for S135L, and 105 patients homozygous for two GALT-null (G) alleles. This is the largest cohort of S135L patients characterized to date. Acute disease following milk exposure in the newborn period was common among patients in all 3 comparison groups in our study, as were long-term complications in the domains of speech, cognition, and motor outcomes. In contrast, while at least 80% of both GALT-null and S135L compound heterozygous girls and women showed evidence of an adverse ovarian outcome, prevalence was only 25% among S135L homozygotes. Further, all young women in this study with even one copy of S135L achieved spontaneous menarche; this is true for only about 33% of women with classic galactosemia. Overall, we observed that while most long-term outcomes trended milder among groups of patients with even one copy of S135L, many individual patients, either homozygous or compound heterozygous for S135L, nonetheless experienced long-term outcomes that were not mild. This was true despite detection by newborn screening and both early and life-long dietary restriction of galactose. This information should empower more evidence-based counseling for galactosemia patients with S135L.

BACKGROUND: Studies suggest excessive screen time (use of smartphones, televisions, computers and/or video games) is linked to speech and language delay. This study explored the sociodemographic characteristics of children with speech delay in Kuantan, Malaysia, and the association of screen time with speech and other developmental delays.
METHODS: This cross-sectional study was conducted between July and November 2019 at the child psychiatry and speech therapy clinics, at Kuantan Hospital, Pahang, Malaysia. Parents of children with speech delay aged <72 months provided information on their children\'s and their own screen times. Speech and other developmental skills were assessed using the Schedule of Growing Skills II with scores reported as developmental quotient (DQ) level.
RESULTS: The study included 91 children (67 boys, 24 girls) of whom 54.9% had primary speech delay and 45.1% had neurodevelopmental disorders; their mean age was 39.9 ± 11.52 months. The children\'s mean screen time was 2.26 ± 1.98 h daily, with 36.3% exceeding 2 h. Higher children\'s screen time was moderately correlated with higher parental screen time (rs = 0.479, P < 0.01). Household income was positively correlated with screen times of the children and the parents (rs = 0.243, P = 0.02 and rs = 0.390, p < 0.01, respectively). Parents who intended to reduce their children\'s screen time reported higher screen time in their children (t(89) = 2.322, P = 0.023). Children\'s age was positively correlated with the number of types of screen media (rs = 0.225, P = 0.032). The mean speech DQ was 54.76 ± 24.06%. Lower speech DQ was associated with lower DQs in other skills (P < 0.01). No significant correlation was shown between children\'s and parents\' screen time with DQs of speech and other skills (P > 0.05).
CONCLUSIONS: The correlation between parent and child screen time provides an opportunity for possible intervention, where necessary. Larger studies are required to examine this correlation further.

Studies on atypical phonological development are very limited for Arabic, and to date no studies on Arabic have investigated the development of phonology in children with conditions such as Down Syndrome. Arabic, like other Semitic languages, is rich in consonants and consonantal variation. However, it differs greatly from region to region, and so reports on individual dialects or regional dialects are necessary. Kuwaiti Arabic, the focus of the present paper, is similar to other dialects in the Gulf region.
This is a preliminary study to examine the phonological development of school-aged Kuwaiti Arabic-speaking children with Down Syndrome in order to start to address the research gap noted above.
Six Kuwaiti Arabic-speaking children were recruited for this pilot study from integrated public schools where children with disabilities and typically developing children are enrolled in the State of Kuwait: three male and three female students, age range of 5;10-12;3 years. All participants had the same single word speech test of 100 words. The first author, a native speaker of Kuwaiti Arabic, audio-recorded and phonetically transcribed the sample with the help of two speech-language pathologists from Kuwait. Reliability was confirmed by the first author and another expert rater. Both match and mismatch analyses were performed and compared to existing literature.
Overall consonant accuracy across participants was 50%, with a variety of matches across consonant categories. However, the participants also exhibited a wide range of mismatches across positions in words and phonological features (place, manner, and laryngeal features). Place substitutions were the most frequent. Some sounds exhibited double (place and manner) mismatches. The most common word structure mismatch was consonant cluster reduction (no matches for word-initial clusters). Mismatch patterns resembled both those of normally developing Kuwaiti children and those of English speakers with Down Syndrome in certain ways.
This pilot study provides preliminary information for clinicians regarding the speech or children with Down Syndrome (DS), not only in Kuwait but also in the Gulf region where there are similarities to Kuwaiti Arabic.

To establish an association between adenoid hypertrophy and hearing loss and its impact on speech and language in pediatric age group. A prospective case control study done in a tertiary hospital in South India. Twenty children with hearing loss were recruited in the study group and twenty-four children as controls. These groups underwent at detailed otorhinolaryngologic examination, hearing and speech evaluation. The size of the adenoids was graded endoscopically. Findings between the two groups were compared and analysed. Our study found statistically significant association between adenoid hypertrophy with choanal obstruction and abutment of eustachian tube opening seen on endoscopy with hearing loss (p = 0.025). The children with hearing loss also had speech and language delay (p = 0.004). Children with enlarged adenoids obstructing the > 50% of the choanae or abutting the eustachian tube opening are more likely to have hearing loss and may develop speech and language delay. The ACE endoscopic adenoid grading system is consistent and reliable in evaluation of adenoids.

OBJECTIVE: Developmental impairment is a common problem in children health that occurs in approximately 5-10% of the childhood population. The aim of this study was to determine the etiologic yield of subspecialists\' evaluation of young children with developmental disability.
METHODS: All children aged between 2 months and 5 years referred over a 15-month period to Hamadan University of Medical Sciences subspecialty services for initial evaluation of a suspected developmental Disability, were enrolled in the present study. Diagnostic yield was determined after the completion of clinical assessments and laboratory tests requested by the evaluating physician.
RESULTS: A total of 198 children (129 boys and 69 girls) were eligible for our study. 108 children had global developmental delay and 90 children had isolated developmental delay. Approximately ¼ of all patients did not have any specific etiology for developmental disability. Cerebral palsy (CP) was the most common clinical syndrome in all patients (41.4%). Hypoxic ischemic encephalopathy (13.8%), brain dysgenesis (13%), genetic disorder (13%), and neurodegenerative diseases (11%) were determined in more than one half of all children with global developmental disability. in our study, \"developmental speech delay\" was the common cause of isolated speech delay.
CONCLUSIONS: Determination of an underlying etiology is an essential part of specialty evaluation of young children with developmental disability. The results of this study were similar closely to the results of other studies.