Pediatrics for Disability: A Comprehensive Approach to Children with
Syndromic Psychomotor Delay

Tarani, Luigi; Rasio, Debora; Tarani, Francesca; Parlapiano, Giovanni; Valentini, Diletta; Dyląg, Katarzyna Anna; Spalice, Alberto; Paparella, Roberto; Fiore, M.

doi:10.2174/1573396317666211129093426

Cited by 8 publications

(4 citation statements)

References 111 publications

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“…PPP is characterized by an increase in adrenal and gonadal sex steroids in the absence of HPG axis activation; the pubertal characteristics may be valid for the child's sex (isosexual) or inappropriate, with virilization of girls and feminization of boys (contrasexual) [29]. It can be congenital, with the most frequent forms represented by congenital adrenal hyperplasia and McCune-Albright syndrome, or acquired, mainly related to hormone-secreting endocrine tumors [2,11,30].…”

Section: Peripherical Precocious Pubertymentioning

confidence: 99%

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Clinical Management and Therapy of Precocious Puberty in the Sapienza University Pediatrics Hospital of Rome, Italy

Micangeli,

Paparella,

Tarani

et al. 2023

Children

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Puberty identifies the transition from childhood to adulthood. Precocious puberty is the onset of signs of pubertal development before age eight in girls and before age nine in boys, it has an incidence of 1/5000–1/10,000 with an F:M ratio ranging from 3:1 to 20:1. Precocious puberty can be divided into central, also known as gonadotropin-dependent precocious puberty or true precocious puberty, and peripheral, also recognized as gonadotropin-independent precocious puberty or precocious pseudopuberty. Thus, the main aim of this narrative report is to describe the standard clinical management and therapy of precocious puberty according to the experience and expertise of pediatricians and pediatric endocrinologists at Policlinico Umberto I, Sapienza University of Rome, Italy. In the suspicion of early sexual maturation, it is important to collect information regarding the age of onset, the speed of maturation of secondary sexual features, exposure to exogenous sex steroids and the presence of neurological symptoms. The objective examination, in addition to the evaluation of secondary sexual characteristics, must also include the evaluation of auxological parameters. Initial laboratory investigations should include serum gonadotropin levels (LH and FSH) and serum levels of the sex steroids. Brain MRI should be performed as indicated by the 2009 Consensus Statement in all boys regardless of chronological age and in all girls with onset of pubertal signs before 6 years of age. The gold standard in the treatment of central precocious puberty is represented by GnRH analogs, whereas, as far as peripheral forms are concerned, the triggering cause must be identified and treated. At the moment there are no reliable data establishing the criteria for discontinuation of GnRH analog therapy. However, numerous pieces of evidence suggest that the therapy should be suspended at the physiological age at which puberty occurs.

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Section: Peripherical Precocious Pubertymentioning

confidence: 99%

“…The family pediatrician plays a fundamental role in paying attention to pubertal development during normal health checks of the child, quickly referring a patient to a pediatric endocrinologist in case of pubertal activation signs, considering its increased prevalence in European countries [30,33].…”

Section: Diagnosismentioning

confidence: 99%

Clinical Management and Therapy of Precocious Puberty in the Sapienza University Pediatrics Hospital of Rome, Italy

Micangeli,

Paparella,

Tarani

et al. 2023

Children

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“…APS-2 is a polygenic, complex genetic disorder associated with human leukocyte antigen (HLA) and non-HLA genes, representing the most frequent autoimmune polyglandular syndrome [ 3 ]. Based on the complexity of these diseases, the role of the pediatrician is crucial in the appropriate identification of the clinical picture and in supporting the family during the continuative process that involves the management of these patients [ 7 , 8 , 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

Autoimmune Polyendocrine Syndromes in the Pediatric Age

et al. 2023

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Autoimmune polyendocrine syndromes (APSs) encompass a heterogeneous group of rare diseases characterized by autoimmune activity against two or more endocrine or non-endocrine organs. Three types of APSs are reported, including both monogenic and multifactorial, heterogeneous disorders. The aim of this manuscript is to present the main clinical and epidemiological characteristics of APS-1, APS-2, and IPEX syndrome in the pediatric age, describing the mechanisms of autoimmunity and the currently available treatments for these rare conditions.

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“…For this reason, we have examined pediatric syndromes that are related to an alteration of oxidative stress, such as fetal alcohol spectrum disorders (FASD), Williams syndrome, Down syndrome, Marfan syndrome, Gaucher syndrome, ataxia–telangiectasia, autistic spectrum disorders, Fanconi’s anemia, and primitive immunodeficiencies [ 5 , 6 , 7 , 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

The Impact of Oxidative Stress on Pediatrics Syndromes

et al. 2022

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Oxidative stress is a condition determined by an imbalance between antioxidant and oxidative factors. Oxidative stress can have serious consequences on our organism. Indeed, it causes both necrosis and cell apoptosis, determining cellular aging, increased carcinogenesis, vascular stiffening, increased autoimmune diseases, and muscle decay. In the context of pediatric syndromes, oxidative stress could play a role in the first order. In fact, our review of the literature showed that in some pathologies, such as fetal alcohol spectrum disorders, oxidative stress related to the intake of ethanol during pregnancy is a main etiological factor determining the associated clinical syndrome. On the contrary, in Williams syndrome, Down syndrome, Marfan syndrome, Gaucher syndrome, ataxia-telangiectasia, autistic spectrum disorder, Fanconi’s anemia, and primitive immunodeficiencies, the increase in oxidative stress is directly associated with the genetic alterations that cause the same pathologies. Although further studies are needed to better understand the relationship between oxidative stress and pediatric diseases, a better knowledge of this crucial issue encourages future therapeutic strategies.

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Pediatrics for Disability: A Comprehensive Approach to Children with Syndromic Psychomotor Delay

Cited by 8 publications

References 111 publications

Clinical Management and Therapy of Precocious Puberty in the Sapienza University Pediatrics Hospital of Rome, Italy

Clinical Management and Therapy of Precocious Puberty in the Sapienza University Pediatrics Hospital of Rome, Italy

Autoimmune Polyendocrine Syndromes in the Pediatric Age

The Impact of Oxidative Stress on Pediatrics Syndromes

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