Academic literature on the topic 'Friendship in adolescence – Juvenile literature'

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Friendship in adolescence – Juvenile literature.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Friendship in adolescence – Juvenile literature"

1

Boyatzis, Chris J. "Let the Caged Bird Sing: Using Literature to Teach Developmental Psychology." Teaching of Psychology 19, no. 4 (December 1992): 221–22. http://dx.doi.org/10.1207/s15328023top1904_5.

Full text
Abstract:
Reading lists of developmental psychology courses are replete with scientific theory and research. Narrative material from literature can supplement this theory and research by elucidating psychological concepts with real-life examples, while deepening students' appreciation for the complexity and diversity of development. In several courses I have used Maya Angelou's (1969) I Know Why the Caged Bird Sings, which is highly effective at illustrating many child development topics: development of self-concept and self-esteem, ego resilience, industry versus inferiority, effects of abuse, parenting styles, sibling and friendship relations, gender issues, cognitive development, puberty, and identity formation in adolescence. Students react very positively to the book and to a paper in which they analyze Angelou's development using theory and research from the course.
APA, Harvard, Vancouver, ISO, and other styles
2

Krammer, Stefan. "Abenteuer Männlichkeit. Adoleszenz in Wolfgang Herrndorfs Roman «Tschick»." Studia theodisca 28 (November 4, 2021): 5–24. http://dx.doi.org/10.54103/1593-2478/16670.

Full text
Abstract:
This article deals with literary constructions of masculinity in Wolfgang Herrndorf’s novel Tschick. The focus is on male adolescence as represented by the characters in the text. The study is guided by the question of how the male socialisation of adolescents is narrated in the novel. Themes such as the search for identity, friendship, sexuality and being an outsider are addressed. The analysis is based on theoretical perspectives offered by masculinity studies, intersectional approaches of identity research as well as genre-related reflections on young adult fiction.
APA, Harvard, Vancouver, ISO, and other styles
3

Stoll, Matthew L., and Peter A. Nigrovic. "Subpopulations Within Juvenile Psoriatic Arthritis: A Review of the Literature." Clinical and Developmental Immunology 13, no. 2-4 (2006): 377–80. http://dx.doi.org/10.1080/17402520600877802.

Full text
Abstract:
The presentation of juvenile psoriatic arthritis (JPsA) has long been recognized to be clinically heterogeneous. As the definition of JPsA expanded to accommodate atypical manifestations of psoriasis in young children, studies began to reflect an increasingly clear biphasic distribution of age of onset, with peaks in the first few years of life and again in early adolescence. These two subpopulations differ in gender ratio, pattern of joint involvement, laboratory findings and potentially response to therapy. Intriguingly, a similar distribution of age of onset has been observed in juvenile rheumatoid arthritis (JRA), and correlates with patterns of HLA association. While a secure classification of subpopulations within JPsA awaits improved pathophysiologic understanding, future research must consider the possibility that different disease mechanisms may be operative in distinct subsets of patients with this disorder.
APA, Harvard, Vancouver, ISO, and other styles
4

Eleftheriades, Anna, Ermioni Tsarna, Konstantina Toutoudaki, Eleni Paschalidou, Nikolaos Christopoulos, Ioannis Georgopoulos, Georgia Mitropoulou, and Panagiotis Christopoulos. "Giant Juvenile Fibroadenoma: Case Report and Review of the Literature." Journal of Clinical Medicine 12, no. 5 (February 26, 2023): 1855. http://dx.doi.org/10.3390/jcm12051855.

Full text
Abstract:
Fibroadenomas are common benign breast tumors. Fibroadenomas that exceed 5 cm in diameter, weigh more than 500 g, or replace more than four-fifths of the breast are characterized as giant. A fibroadenoma diagnosed in patients during childhood or adolescence is characterized as juvenile. An extensive PubMed search of the literature in English up until August 2022 was performed. In addition, a rare case of a gigantic fibroadenoma in an 11-year-old premenarchal girl who was referred to our adolescent gynecology center is presented here. Eighty-seven cases of giant juvenile fibroadenomas have been reported in the literature along with our case. Patients with giant juvenile fibroadenoma presented at a mean age of 13.92 years and usually after menarche. Juvenile fibroadenomas are usually unilateral, occurring either in the right or the left breast; the majority of them are diagnosed when they are already more than 10 cm in size, and they are most frequently treated with total lump excision. Differential diagnosis includes phyllodes tumors and pseudo-angiomatous stromal hyperplasia. Conservative management is feasible, but surgical excision is recommended to patients with suspicious imaging features or when the mass grows rapidly.
APA, Harvard, Vancouver, ISO, and other styles
5

Owen, Gabrielle. "Juvenile Literature and British Society, 1850–1950: The Age of Adolescence (review)." Children's Literature Association Quarterly 36, no. 3 (2011): 348–51. http://dx.doi.org/10.1353/chq.2011.0036.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

M, Vaccaro. "Preliminary Study on the Factors Influencing the Inception of Romantic Relationships in Adolescence." Ergonomics International Journal 7, no. 5 (September 22, 2023): 1–13. http://dx.doi.org/10.23880/eoij-16000315.

Full text
Abstract:
Based on literature that highlighted the importance of romantic relationships in adolescence and highlighted that parental attachment may play a decisive role in the development of romantic relationships, the present research aim to analyse, using tests and questionnaires, possible factors affecting the emergence of romantic relationships in adolescence considering parental attachment, quality of romantic relationships and self-esteem as variables. The data refer to a sample consisting initially of 99 adolescents (43 females and 56 males) between the ages of 14 and 17 years, attending an Italian Professional Institute. Subsequently, the study focused on subjects who claimed to be currently in a loving relationship (N=29). SPSS statistical software version 20.0 was used in the data analysis. The main results showed that a large part of the sample has secure attachment (44.8%), detected by SAT. Some of the main characteristics of love relationships (conflict, friendship, help, safety, intimacy, sexuality and future perspective) were taken into consideration. From the present study, the correlation between attachment and loving relationship does not appear to be confirmed, as claimed so far in the emerging literature, although the limited number of subjects involved may have been a limitation.
APA, Harvard, Vancouver, ISO, and other styles
7

Martinez, Brynheld, and Nina Howe. "CANADIAN EARLY ADOLESCENTS’ SELF-DISCLOSURE TO SIBLINGS AND BEST FRIENDS." International Journal of Child, Youth and Family Studies 4, no. 2 (April 10, 2013): 274. http://dx.doi.org/10.18357/ijcyfs42201312212.

Full text
Abstract:
This study addressed children's reports of self-disclosures to their siblings and best friends in early adolescence. Twenty-four boys and 22 girls in Grade 4 (<em>M </em>age = 9.48,<em> SD </em>= .59) and 19 boys and 28 girls in Grade 6 (<em>M</em> age = 11.15 years, <em>SD</em> = .55) were interviewed regarding disclosures to siblings and friends. They also completed the Sibling Relationship Questionaire (Furman &amp; Buhrmester, 1985b) and the Friendship Activity Questionaire (Bukowski, Hoza, &amp; Boivin, 1994) to rate the quality of each relationship. Participants were more likely to disclose peer, academic, and shared interest issues to friends than siblings. Boys reported discussing shared interests more frequently with both siblings and friends. Respondents who disclosed to their siblings also reported higher warmth, rivalry, and greater conflict in their sibling relationship. Early adolescents who did not disclose to their friends reported greater friendship conflict. Findingds are discussed in light of recent theory and empirical literature.
APA, Harvard, Vancouver, ISO, and other styles
8

Denkova, Jovanka D. "THE SIGNIFICANCE OF FRIENDSHIP AND LONELINESS IN PEER RELATIONSHIPS, SHOWN IN MACEDONIAN LITERATURE FOR CHILDREN AND YOUTH." Detinjstvo L, no. 1 (2024): 133–43. http://dx.doi.org/10.46793/childhood24.1.133d.

Full text
Abstract:
Humans are social beings for whom social communication with other people is vital. Usually, when the word “loneliness” is mentioned, the first association is related to older people, or people of an advanced age. But the fact is that loneliness cannot be linked specifically to a certain age in a person. Neither children nor adolescents are an exception to that. Adolescence is a period of transition, in which young people face many new challenges, both in their family and at school. Hence, it is crucial for the young man to have harmonious relations in his family, and especially to establish friendly relations at school, in places where young people go out, etc. In this way, friendship with peers can relieve them of the stress related to school, grades, appearance that changes “overnight”, etc. In this article, we refer to those few key moments, through appropriate examples that we will extract from contemporary Macedonian literature for children and youth.
APA, Harvard, Vancouver, ISO, and other styles
9

Lu, Yang, Stephan Waltz, Katja Stenzel, Hiltrud Muhle, and Ulrich Stephani. "Photosensitivity in epileptic syndromes of childhood and adolescence." Epileptic Disorders 10, no. 2 (June 2008): 136–43. http://dx.doi.org/10.1684/epd.2008.0183.

Full text
Abstract:
ABSTRACT Purpose Photosensitivity, a reaction of the brain to external photic stimulation, can be graded from 1 to 4, and is most frequently seen in the first decades of life. This study investigated photosensitivity in children with epilepsy. Methods A retrospective study performed in the neuropaediatric department of the largest paediatric hospital in Kiel, treating patients at all medical care levels. The clinical data and EEG records of 566 patients with the most common epileptic syndromes were analyzed, in particular regarding photosensitivity. Their EEGs included application of intermittent light stimulation using standard techniques at twice the minimum. Results The proportion of photosensitive patients was significantly higher in the paediatric cohort than in adult patients, as published in the literature: 46% of patients with generalized epilepsies showed photosensitivity as compared to 20% with focal epilepsies. Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile myoclonic epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial – Rolandic epilepsy, 23%; symptomatic/ cryptogenic type of epilepsy, 16%), while in patients who experienced occasional seizures (neonatal/febrile seizures), this ranged between 40% and 23%, respectively. The generalized photoparoxysmal response, (PPR), grades 3 and 4 were found significantly more often in patients with IGE (92%) than in patients with focal epilepsies. Finally, the female preponderance was confirmed (37% to 27% of all epilepsies). Conclusions Photosensitivity can be detected both in patients with IGE, with idiopathic and symptomatic/cryptogenic types of focal epilepsies, and with epileptic (occasional) seizures. PPR grades 3 and 4 are the most common in IGE.
APA, Harvard, Vancouver, ISO, and other styles
10

Ashnagar, Azin, Samin Alavi, Yalda Nilipour, Roxana Azma, and Farahnaz Falahati. "Massive Ascites as the Only Sign of Ovarian Juvenile Granulosa Cell Tumor in an Adolescent: A Case Report and a Review of the Literature." Case Reports in Oncological Medicine 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/386725.

Full text
Abstract:
Ovarian neoplasms are relatively rare in childhood and adolescence; only 5% to 8% of the cases are of sex cord stromal origin. Granulosa cell tumors are a group of estrogen producing sex cord stromal tumors of the ovary. They occur in 95% of the cases in adults, and only about 5% of the cases, which differ in histologic characteristics, are of juvenile type. A 13-year-old girl is reported who presented with massive abdominal distention and ascites. An abdominopelvic computed tomography scan showed a predominantly cystic mass lesion with septations arising from the left ovary. All tumor markers were normal, but serum inhibin level was increased. The patient underwent mass resection with salpingoophorectomy. Histopathology was compatible with the juvenile granulosa cell tumor. Interestingly, menarche was started in the patient soon after the surgery. To the best of our knowledge, massive ascites as the only clinical manifestation in the juvenile granulosa cell tumor has not reported as yet.
APA, Harvard, Vancouver, ISO, and other styles

Dissertations / Theses on the topic "Friendship in adolescence – Juvenile literature"

1

Swenson, Lisa M. "Adolescent friendship, relationship quality, and delinquency associations with social and cognitive problem-solving performance /." Morgantown, W. Va. : [West Virginia University Libraries], 2003. http://etd.wvu.edu/templates/showETD.cfm?recnum=2807.

Full text
Abstract:
Thesis (Ph. D.)--West Virginia University, 2003.
Title from document title page. Document formatted into pages; contains v, 86 p. : ill. Includes abstract. Includes bibliographical references (p. 52-58).
APA, Harvard, Vancouver, ISO, and other styles
2

Iao, Lai San. "A review of literature on personality traits among juvenile delinquents." Thesis, University of Macau, 2018. http://umaclib3.umac.mo/record=b3953716.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Wendtorf, Dirk Christian. "Adoleszenz, Verantwortung und Poetologisches Konzept: Erklärungsmodelle zur Motivation Jugendlicher Angehöriger der Nationalsozialistischen Wehrmacht in der Jugendliteratur der Nachkriegszeit." University of Cincinnati / OhioLINK, 2003. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1046898681.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Nordström, Jacobsson Monica. "Peter Pohls litterära projekt : en tematisk studie med utgångspunkt i debutromanen Janne, min vän." Doctoral thesis, Umeå universitet, Institutionen för kultur- och medievetenskaper, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1887.

Full text
Abstract:
In his literary works, the Swedish author Peter Pohl (b. 1940) persistently deals with the issue of friendship which is described as a source of joy and consolation as well as a cause for difficulties and pain. Another common theme in his writing is vulnerability, especially that of children and adolescents, as he regards them as particularly exposed to violence and injustice. Pohl features the act of telling as an important instrument in the process of personal development on many different levels. Finally, his authorship shows that his purpose is to be a spokesman for those who cannot speak for themselves. These four topics which are visible in the main part of his production represent the most important aspects of Pohl's literary project which may be described as a desire to improve the conditions of less privileged groups of society. This thesis deals with the works by Pohl written between 1985 and 2007. In the first chapter, the author is presented. The second chapter is an analysis of his first novel Janne, min vän with a special focus on the above-mentioned themes. Chapter three deals with the novel Malins kung Gurra, a story for young readers that can be looked upon as second, but simpler version of Janne, min vän. In chapter four, the five novels Regnbågen har bara åtta färger, Medan regnbågen bleknar, Vi kallar honom Anna, Vilja växa and Klara papper är ett måste are analyzed and discussed. The last chapter is an attempt at dealing with the remaining books written by Pohl. The aim is to establish whether these works are compatible with the general picture given of Pohl’s literary project.
APA, Harvard, Vancouver, ISO, and other styles
5

Mui, Man Cheng. "review of literature on the negative influences of violent entertainments on adolescents :recommendations for Macau." Thesis, University of Macau, 2016. http://umaclib3.umac.mo/record=b3570099.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Reavis, E. "Adolescent Female Identity Development and Its Portrayal in Select Contemporary Young Adult Fiction." Thesis, School of Information and Library Science, 2004. http://hdl.handle.net/1901/116.

Full text
Abstract:
This study describes a content analysis of six contemporary young adult fiction novels. Adolescence is a time of great change, particularly for girls. It is during this time that female adolescents develop their voice and identity. As literature reflects the reader’s world, it also affects in part how female adolescents perceive their identity. Latent content analysis was used to code eight variables to determine if select contemporary young adult fiction novels appropriately describe the development of identity among adolescent females. All of the novels included in the study provided sufficient evidence of accurate portrayal of female adolescent identity development, by having examples of at least four out of eight variables, with most having examples of seven out of eight variables.
APA, Harvard, Vancouver, ISO, and other styles
7

Sheehan, Dinah Belle. "Central Stories." PDXScholar, 2011. https://pdxscholar.library.pdx.edu/open_access_etds/1215.

Full text
Abstract:
Central Stories is a series of interconnected stories about students at a fictional high school. Each story focuses on a pair or small group of students who are grappling with issues of gender identity, sexual orientation, and changing friendships. These stories explore varying aspects of the coming out processes, as well as attendant character-developments related to adolescence.
APA, Harvard, Vancouver, ISO, and other styles
8

Gani, Safiyyah. "The fortifying and destructive power of love in J.K. Rowling’s Harry Potter series." Thesis, 2011. http://hdl.handle.net/10500/5304.

Full text
Abstract:
The aim of this study is to explore the importance of love in its various manifestations in the lives of the Harry Potter characters and its power to consequently influence the paths that they eventually choose to walk. Love is investigated as the reason behind the choice between good and evil as well as paradoxically both a fortifying as well as a destructive force. Furthermore, it attempts to examine the importance that love plays in the healthy or dysfunctional development of the characters. Numerous philosophies and theories that span two different eras will form the theoretical framework of this research paper. There will be a constant interplay between the theories and the main text, that is, the seven Harry Potter books that together represent the Harry Potter series. Additionally, the author‟s opinion acquired from invaluable fan interviews will be utilized in order to improve the understanding of the characters motivations. The introduction is a brief explanation of key terms and theories that are essential to the exploration of love in the Harry Potter series. The study comprises five chapters. The first three chapters are concerned with the three main manifestations of love represented in the series, namely; parental love, friendship and romance respectively. Chapter Four focuses on the adaptation of the novels into movies and the subsequent result that this has on the depiction of love. Chapter Five highlights the finding of the study conducted.
English Studies
M.A. (English)
APA, Harvard, Vancouver, ISO, and other styles

Books on the topic "Friendship in adolescence – Juvenile literature"

1

Fox, Annie. The girls' Q & A book on friendship: 50 ways to fix a friendship without the drama. New York: CreateSpace Independent Publishing Platform, 2014.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
2

Relationship smarts: How to navigate dating, friendships, family relationships, and more. Minneapolis: Twenty-First Century Books, 2012.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
3

Gang free: Friendship choices for today's youth. Minneapolis, MN: Fairview Press, 1995.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
4

Girls: Being best friends. New York: Rosen Pub., 2013.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
5

ill, Martini Angela, ed. A smart girl's guide to friendship troubles: Dealing with fights, being left out & the whole popularity thing. Middleton, WI: Pleasant Co., 2003.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
6

Criswell, Patti Kelley. A smart girl's guide to friendship troubles: Dealing with fights, being left out & the whole popularity thing. Middleton, WI: American Girl, 2003.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
7

Johnson, Julie Tallard. Making friends, finding love. Minneapolis: Lerner Publications Co., 1992.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
8

Bender, Alexandra Sabina. Alana's advice--: When there's a clique, you've got to think quick. Bethel, CT: Crown House Pub., 2007.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
9

Moehn, Heather. Everything you need to know about cliques. New York: Rosen Pub. Group, 2001.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
10

illustrator, Martini Angela, ed. Friends till the end?: A quiz book for a smart girl's guide: friendship troubles. Middleton, WI: American Girl Publishing, 2013.

Find full text
APA, Harvard, Vancouver, ISO, and other styles

Book chapters on the topic "Friendship in adolescence – Juvenile literature"

1

Scott, Charles L., and Peter Ash. "Juvenile Aspects of Stalking." In Stalking. Oxford University Press, 2007. http://dx.doi.org/10.1093/oso/9780195189841.003.0017.

Full text
Abstract:
Stalking that elicits fear in the target is relatively rare below age 16. Case reports reveal that some children and adolescents exhibit stalking behavior, and research on college populations suggests that stalking behavior in late adolescence is not uncommon. Stalking is a theme seen in movies and children’s literature. The definition of stalking is used to distinguish stalking from developmentally normal following behavior commonly seen as a component of adolescent courtship, admiration, or crushes. This chapter reviews the literature on juvenile stalkers, including the frequency and patterns of juvenile stalking and the characteristics of juvenile stalkers. The chapter also provides suggestions for assessment, interventions, and legal responses in the management of the juvenile stalker. Some stalking-like behaviors are common in immature courtship behaviors of children and adolescents, but stalking characterized by repeated unwanted intrusion and communications that elicit fear in the target is relatively rare. In recent years, a number of published case reports suggest that some children and young adolescents exhibit stalking behavior, and research on college populations suggests that stalking behavior in late adolescence is not so uncommon. To help illustrate how pathological stalking overlaps with themes in normal development, this chapter begins with a survey of stalking in movies and children’s literature. The chapter then uses the definition of stalking to distinguish stalking from developmentally normal following behavior commonly seen as a component of adolescent courtship, admiration, or crushes. Literature on juvenile stalkers is then reviewed to provide a picture of how commonly stalking occurs, as well as the characteristics of juvenile stalkers. The chapter then considers certain other behaviors that resemble stalking and examines theories about how stalking behavior develops. Finally, the chapter discusses the important topic of managing the juvenile stalker, including assessment, interventions, and legal responses. Children and adolescents may be exposed to stalking behaviors and themes through television, books, and movies. The influence of media representations of crime and violence is an important avenue of exploration in general clinical work with children and adolescents.
APA, Harvard, Vancouver, ISO, and other styles
2

Ramirez, Nayan G. "The Role of Adolescent Friendship Networks in Queer Youth’s Delinquency." In Queering Criminology in Theory and Praxis, edited by Carrie L. Buist and Lindsay Kahle Semprevivo, 189–205. Policy Press, 2022. http://dx.doi.org/10.1332/policypress/9781529210699.003.0014.

Full text
Abstract:
Little is known about the interplay between sexual orientation and juvenile delinquency during adolescence. Yet, examining the social networks of queer youth can help us disentangle what aspects of friendship networks (e.g., social isolation, centrality, reciprocation, etc.) lead to greater delinquent involvement. This chapter will examine whether differences exist in queer youth’s involvement in delinquency and how differences in the network characteristics of queer youth affect their patterns of delinquency and substance use. Results from this study have wide practical applications as they provide avenues for schools and educators to improve programming related to queer youth, especially as it relates to queer youth’s feelings of school connectedness and social integration as well as general improvements to school climate (e.g., establishing a gender-sexuality alliance student group).
APA, Harvard, Vancouver, ISO, and other styles
3

Dubé Ritch, Eric M., C. Savin-Williams, and Lisa M. Diamond. "Intimacy Development, Gender, and Ethnicity among Sexual-Minority Youths." In Lesbian, Gay, and Bisexual Identities and Youth, 129–52. Oxford University PressNew York, NY, 2001. http://dx.doi.org/10.1093/oso/9780195119527.003.0006.

Full text
Abstract:
Abstract Developmental theories and supporting research emphasize that intimacy becomes most salient during adolescence (Erikson, 1963; Furman & Buhr-mester, 1992; Praeger, 1995; Sullivan, 1953). To date, the literature on adolescent intimacy and interpersonal relationships is rich with data on interpersonal behaviors (Patterson, 1976), attachment relationships (Hazan & Shaver, 1987; Reis & Patrick, 1996), friendship networks (Buhrmester & Furman, 1987), and intimacy motivations (McAdams & Vaillant, 1982). While researchers have not reached a consensus on what intimacy is, for purposes of this paper intimacy is best understood as perceived closeness and mutual understanding on the part of relational partners. Consequently, intimacy can be achieved in romantic, sexual, and friendship relationships.
APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "Friendship in adolescence – Juvenile literature"

1

Machado, Roberta Ismael Lacerda, Bruno de Mattos Lombardi Badia, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, José Marcos Vieira de Albuquerque Filho, Paulo Victor Sgobbi de Souza, and Acary Souza Bulle Oliveira. "INPP5K-Related congenital muscular dystrophy: when juvenile cataracts give clues to a complex diagnosis." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.511.

Full text
Abstract:
Introduction: Congenital muscular dystrophies (CMDs) are a group of rare genetic muscle diseases that present at birth or during infancy with hypotonia and weakness. Multiple forms of CMDs are also associated with cerebral and ocular phenotypes. Recently, INPP5K mutations have been described associated with CMD, cataracts and cognitive impairment. The INPP5K gene, encodes SKIP, one of the enzymes that phosphorylate the 5-phosphate position of phosphoinositides and is highly expressed in developing and adult brain, eye and muscle. Methods: We performed a case report of three Brazilian patients with INPP5KCMD with cataracts and intellectual disability under clinical follow-up at our service. Results: Case 1: 39 years old, female, presenting with progressive leg weakness since childhood, mild intellectual disability and bilateral cataracts at 20 years. Her 35-yearold sister (Case 2) had a similar clinical picture with limb-girdle weakness since childhood, cognitive impairment and early- onset bilateral cataracts. Both with myopathic pattern in EMG, elevated creatine phosphokinase (CK) and dystrophic pattern in muscle biopsy. Brain MRI studies disclosed a large megacistern in the elderly and no abnormalities in the younger sister. Genetic testing: c.653_655del(p.(Ser218del) in homozygosity in INPP5K gene. Case 3: 20 years old, female, normal motor development but learning difficulties since childhood. Presented with progressive pelvic girdle weakness in childhood and bilateral cataracts in late adolescence. Exams disclosed elevated CK, brain MRI was normal and genetic testing with the following mutation in INPP5K gene:c.[881_883del];[1088T>C];p.[Ser294del];[Ile363Thr]. Conclusion: We describe patients with CMD, cataracts and intellectual disability, caused by mutation in the INPP5K gene. In literature few cases are reported.
APA, Harvard, Vancouver, ISO, and other styles
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography