Beyond the literal meaning of words in children with klinefelter syndrome: two case studies

Literature on children with Klinefelter Syndrome (KS) points to general linguistic difficulties in both comprehension and production among other cognitive functions, and in the majority of cases, these coexist with an intellectual level within the norms. In these conditions, children having language delay generally engage in language therapy and are systematically monitored across ages. In this article, we present the profiles of two children with KS (47, XXY), aged 9.1 (Child S) and 13 (Child D), whose language development was assessed as adequate at age 3, and for this reason, did not receive any language treatment. At the present stage, their IQ, as measured by Wechsler Scales (Child S: 92; Child D: 101), is within the norm, but they both present marked weaknesses in pragmatic skills such as figurative language comprehension. The analysis of these two cases points to the need to go beyond global indexes of verbal abilities, as the same global index may mask a wide diversification of individual profiles. In addition, this study underlines the importance of monitoring the developmental trajectories of children like Child D and Child S, because weaknesses in pragmatic skills that are relevant for both academic achievement and social adaptation could emerge at later stages

Unreliable estimation of prevalence of fetal alcohol syndrome

Svetlana Popova and colleagues (March, 2017)1 sought to estimate the global, regional, and national prevalence of alcohol use during pregnancy and fetal alcohol syndrome (FAS). The authors reviewed inter-national literature from 1984 for country-specific quantitative studies and for countries with one or no studies they predicted gestational alcohol use prevalence by fractional response regression modelling and prevalence of FAS by an estimated quotient for the average number of women consuming alcohol during pregnancy per one case of FAS. For estimation of FAS prevalence, Italy was reported to be among the five countries worldwide with the highest prevalence of FAS per 10000 peopl

Obituary of Dr. Angelo Di George

[No abstract available

Chiari type I malformation, syncope, headache, hypoglycemia and hepatic steatosis in an 8-year old girl: a causal association?

Chiari type I malformation (CMI) is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequence of Chiari type I malformation

Follow-up about two case reports after posaconazole therapy

Zygomycosis is a rare opportunistic fungal infection, that often complicates patients with uncontrolled Diabetes Mellitus, primary and acquired immunodeficiencies as defects of the cell-mediated immunity, myelodisplastic syndrome, hematological malignancies undergoing chemotherapy , HIV and long term therapy with steroid [1]. Mortality rate of these patient is very high, until 85% [2]. The causative organism is an aerobic saprophytic fungus, releasing spores, belonging to the order of Mucorales of the class Zygomycetes [3]. Inhalation and direct contamination of skin lesions are the major causes of infection, so the sporangiospores can migrate up to the lungs, nasal cavity and paranasal sinuses, gut and cutaneous tissues causing primary infection, hyphae invade vassels producing thrombi. Rhinocerebral Zygomycosis occurs with cranial nerve palsies, eye proptosis, pain and often blindness. Zygomicetes can invade central nervous system (CNS) from paranasal sinuses or remote site of infecton [1]. This life-threatening infection could be defeat through early detection, surgical excision and appropriate debridement, aggressive antifungal therapy, and control of risk factors, like diabetes mellitus like in our cases. We reported the follow up after long term therapy with Posaconazole in two Italian girls with Diabetes Mellitus Type 1 previously published [1,4]

Clinical and genetic approach to the dysmorphic child

The child affected by a malformative syndrome represents a care challenge for the pediatrician. He is in fact the heart of the multidisciplinary team that has to manage the patient, trying to control the complications of his/her syndrome and promoting the correct psychophysical development. What we must not forget is that the pediatrician provides a continuous support to the child`s family, assisting them from the diagnosis to the management of problems related to the syndrome. This encourages the continuous follow-up of these children remembering also that the pediatrician is fundamental in the clinical management of the syndrome and for facilitating the social integration of these children

Fetal alcohol spectrum disorders in pediatrics. FASD and the pediatrician

Fetal alcohol syndrome (FAS) is a complex and malformative condition due to the teratogenic effect of alcohol consumed during pregnancy. Several epidemiological studies have shown that maternal alcohol use during pregnancy is the most common preventable cause of mental retardation in childhood. The effects of alcohol on the fetus range from abortion to a spectrum of clinical manifestations called Fetal Alcohol Spectrum Disorders (FASD) that includes partial FAS (PFAS), neonatal Alcohol Related Birth Defects (ARBD) and Alcohol Related Neurodevelopmental Disorders (ARND) up to the most severe disease which is the so-called FAS

Nerve growth factor in brain diseases

The nerve growth factor (NGF) belongs to a family of proteins termed neurotrophins, consisting of NGF, brain-derived neurotrophic factor (BDNF), neurotrophin-3 (NT-3), NT-4/5 and NT-6. Today, NGF is well recognized to mediate a large number of trophobiological actions resulting in neurotrophic, immunotrophic and/or metabotrophic effects. The pathobiology of neurodegenerative diseases, including Alzheimer disease, psychiatric disorders (e.g. depression and schizophrenia) and brain parasitic infections have in common the effect of altering the brain levels of neurotrophins and in particular NGF. The involvement of NGF and its TrkA receptor in these pathologies and the recent promising results of NGF therapies are presented and discussed

Testicular dysfunction in 47, XXY boys: when it all begins. A semi-longitudinal study

Objective: Klinefelter syndrome is the most common chromosomal disorder in males, and the most common cause of hypergonadotropic hypogonadism. We describe the natural history of testicular dysfunction in patients with Klinefelter syndrome through the integration of clinical, hormonal and quantitative ultrasound data in a life-course perspective. Design: Prospective semi-longitudinal study. Methods: We included 155 subjects with 47, XXY karyotype (age range: 7 months - 55 years) naïve to testosterone replacement therapy. Subjects were divided according to pubertal stage and age group (transition age and adults). Serial clinical, hormonal and testicular ultrasound assessments were performed. Results: Testicular development progresses until Tanner stage 4, with subsequent regression, whereas Sertoli and germ cell impairment is not hormonally detected before Tanner stages 3-4, as reflected by normal inhibin B values until stage 4 and the fall in the inhibin B/FSH ratio thereafter. The Testosterone/LH ratio peaks during Tanner stages 2-3 and declines from Tanner stage 4 onward, preceding the development of overt hypogonadism. US echotexture progressively worsens until transition age, reflecting ongoing gonadal compromise, whereas quantitative US echotexture measures and the presence of both hypoechoic lesions and microlithiasis independently and significantly predict a lower circulating testosterone level. Conclusions: The findings from this large prospective study contribute to our understanding of the natural history of testicular dysfunction in Klinefelter syndrome, underlining the importance of quantitative testicular US in infancy and childhood, as well as during pubertal development and transition age, for the optimal care of Klinefelter syndrome patients