Journal articles: 'Early onset age'

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Mezzich, Ada, Ralph Tarter, Levent Kirisci, Duncan Clark, Oscar Buckstein, and Cynthia Martin. "Subtypes of Early Age Onset Alcoholism." Alcoholism: Clinical and Experimental Research 17, no. 4 (August 1993): 767–70. http://dx.doi.org/10.1111/j.1530-0277.1993.tb00838.x.

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Ferreiro, Ana. "Early-onset myopathies: Entering a new age." Seminars in Cell & Developmental Biology 64 (April 2017): 158–59. http://dx.doi.org/10.1016/j.semcdb.2017.03.002.

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Verdino, V., A. Goracci, S. Bolognesi, A. Di Muro, F. Pieraccini, and A. Fagiolini. "Early age at onset of psychotic symptoms." European Neuropsychopharmacology 29 (2019): S403. http://dx.doi.org/10.1016/j.euroneuro.2018.11.610.

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Jefferies, Kate, and Niruj Agrawal. "Early-onset dementia." Advances in Psychiatric Treatment 15, no. 5 (September 2009): 380–88. http://dx.doi.org/10.1192/apt.bp.107.004572.

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SummaryDementia is is stereotypically associated with older people. However, in a significant minority it can affect people in their 40s and 50s, or even younger. Currently there is a lack of awareness, even among healthcare professionals, and there is a dearth of appropriate services for such patients. Despite the attention given to this condition by National Institute for Health and Clinical Excellence guidelines, provision of specialist early-onset dementia services in the UK remains patchy. Carers and patients often find themselves being passed ‘from pillar to post’ between psychiatry and neurology, and also between adult, old age and liaison psychiatry. The responsibility for identifying available and appropriate help is often left with carers. This leads to unnecessary delays, causes undue distress to patients and places an added burden on carers.

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MANNO, REBECCA L., FREDRICK M. WIGLEY, ALLAN C. GELBER, and LAURA K. HUMMERS. "Late-age Onset Systemic Sclerosis." Journal of Rheumatology 38, no. 7 (June 17, 2011): 1317–25. http://dx.doi.org/10.3899/jrheum.100956.

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Objective.Although patients who develop systemic sclerosis (SSc) later in life (≥ 65 yrs) may express the entire clinical spectrum of disease, we hypothesize that patients with late-age onset SSc incur a different risk for specific organ manifestations of disease compared to those with early-age onset SSc.Methods.In total, 2300 patients with SSc were evaluated between 1990 and 2009 and reviewed from a university-based scleroderma center cohort. Demographic profile, SSc subtype, autoantibody status, Medsger severity scores, pulmonary function tests, echocardiography, and right heart catheterization measures were compared between late-age onset vs younger-age onset patients with SSc.Results.Overall, 2084 patients (91%) developed SSc prior to age 65, while 216 (9%) were ≥ 65 years. Late-age onset patients had a significantly higher proportion of anticentromere antibodies (42% vs 27%; p = 0.001) compared to early-age onset patients. Risk of pulmonary hypertension (OR 1.76, 95% CI 1.00, 3.12), muscle weakness (OR 1.85, 95% CI 1.30, 1.64), renal impairment (OR 2.83, 95% CI 1.98, 4.04), and cardiac disease (OR 2.69, 95% CI 1.92, 3.78) was greater among those with late-age onset SSc; although risk of digital ischemia (OR 0.64, 95% CI 0.47, 0.86) was reduced. The cumulative incidence of pulmonary hypertension at 5 years was greater among those with late-age onset SSc (9%) compared to those with early-age onset SSc (2.7%; log-rank, p < 0.001).Conclusion.These findings suggest that older patients with SSc are at greater risk for pulmonary hypertension, renal impairment, cardiac disease, and muscle weakness. Awareness of the distinct risk for specific organ manifestations in SSc, in particular pulmonary hypertension, should guide the care of patients with SSc whose disease begins after age 65.

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Hughes, Anne E., Weihua Meng, Stephen Bridgett, and Declan T. Bradley. "RareCFHmutations and early-onset age-related macular degeneration." Acta Ophthalmologica 94, no. 3 (August 13, 2015): e247-e248. http://dx.doi.org/10.1111/aos.12822.

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Fragoso, Yara D., and Paulo Christian Machado. "Hemicrania Continua With Onset at an Early Age." Headache: The Journal of Head and Face Pain 38, no. 10 (November 1998): 792–93. http://dx.doi.org/10.1046/j.1526-4610.1998.3810792.x.

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Kumar, Tinni, Suzan G. Mandla, and Wenda L. Greer. "Familial myelodysplastic syndrome with early age of onset." American Journal of Hematology 64, no. 1 (May 2000): 53–58. http://dx.doi.org/10.1002/(sici)1096-8652(200005)64:1<53::aid-ajh9>3.0.co;2-9.

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Sharman, Steve, Raegan Murphy, John Turner, and Amanda Roberts. "Psychosocial correlates in treatment seeking gamblers: Differences in early age onset gamblers vs later age onset gamblers." Addictive Behaviors 97 (October 2019): 20–26. http://dx.doi.org/10.1016/j.addbeh.2019.05.013.

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Levy-Lahad, Ephrat, Amnon Lahad, Ellen M. Wijsman, Thomas D. Bird, and Gerard D. Schellenberg. "Apolipoprotein E genotypes and age of onset in early-onset familial Alzheimer's disease." Annals of Neurology 38, no. 4 (October 1995): 678–80. http://dx.doi.org/10.1002/ana.410380420.

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Mullan, Michael, Henry Houlden, Fiona Crawford, Angus Kennedy, Penelope Rogues, and Martin Rossor. "Age of onset in familial early onset Alzheimer's disease correlates with genetic aetiology." American Journal of Medical Genetics 48, no. 3 (October 15, 1993): 129–30. http://dx.doi.org/10.1002/ajmg.1320480303.

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Kobayashi, Yu, Noriyuki Akasaka, Tsukasa Ohashi, Shinji Saitoh, Yuko Tomonoh, Shinichi Hirose, and Jun Tohyama. "Early-onset absence epilepsy at eight months of age." Epileptic Disorders 13, no. 4 (December 2011): 417–21. http://dx.doi.org/10.1684/epd.2011.0477.

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Christensen, R. D., B. A. Yoder, V. L. Baer, G. L. Snow, and A. Butler. "Early-Onset Neutropenia in Small-for-Gestational-Age Infants." PEDIATRICS 136, no. 5 (October 12, 2015): e1259-e1267. http://dx.doi.org/10.1542/peds.2015-1638.

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Ferry, Olivia R., David L. Duffy, and Manuel A. R. Ferreira. "Early life environmental predictors of asthma age‐of‐onset." Immunity, Inflammation and Disease 2, no. 3 (July 26, 2014): 141–51. http://dx.doi.org/10.1002/iid3.27.

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Wielosz, Ewa. "LATE-AGE ONSET SYSTEMIC SCLEROSIS." Wiadomości Lekarskie 72, no. 9 (2019): 1683–86. http://dx.doi.org/10.36740/wlek201909114.

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Systemic sclerosis is a multi-organ connective tissue disease characterised by dysfunction and impaired morphology of the blood vessels with non-specific inflammation and progressive fibrosis. In the majority of cases, the onset is observed between 30-50 years of age; in many cases, however, the diagnosis is established in patients < 20 years of age or > 75 years of age. The course of late-onset systemic sclerosis is markedly different from that in early- onset disease. In late-onset patients, limited systemic sclerosis, pulmonary hypertension, primary heart involvement, and anti-centromere antibodies are more commonly observed. Moreover, the diagnosis of systemic sclerosis in patients> 60 years of age is associated with poor prognosis, higher mortality rates, and an increased risk of neoplasms, as compared to younger patients.

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Anderson, W. F., R. M. Pfeiffer, M. A. Tucker, and P. S. Rosenberg. "Divergent cancer pathways for early-onset and late-onset cutaneous malignant melanoma." Journal of Clinical Oncology 27, no. 15_suppl (May 20, 2009): 9079. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.9079.

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9079 Background: Emerging data suggest that cutaneous malignant melanomas (CMM) may arise through divergent cancer pathways, linked to intermittent versus accumulated sun exposure. However, numerous questions remain regarding the timing and/or age of exposure. Methods: We, therefore, systematically examined the effect of aging upon CMM incidence in the Surveillance, Epidemiology, and End Results program of the National Cancer Institute. Standard descriptive epidemiology was supplemented with mathematical models. The impact of advancing age upon CMM incidence was assessed by gender, histopathological subtype (superficial spreading melanoma (SSM) or lentigo maligna melanoma [LMM]), and anatomic site (face, head, and neck [FHN] or lower extremity [LE]). Results: Gender, histopathological and anatomic site were age-specific effect modifiers for CMM, showing divergent (or bimodal) early- and late-onset cancer pathways. Early-onset melanomas were predominantly associated with female gender, SSM, and LE. Late- onset melanomas were correlated with male gender, LMM, and FHN. Early- and late-onset melanoma populations were confirmed with age-period-cohort models (adjusted for period and cohort effects) and two-component mixture models. Conclusions: These results are consistent with a divergent and age-dependent solar hypothesis for CMM. Early-onset melanomas may represent gene-sun exposure interactions occurring early (and/or intermittently) in life among susceptible individuals. Late-onset melanomas possibly reflect accumulated lifelong sun exposure in comparatively less susceptible individuals. Future analytical studies should be adequately powered to account for this age-dependent effect modification for acknowledged (gender, histopathology, and anatomic site) as well as suspected melanoma risk factors such as constituent genetic variants. No significant financial relationships to disclose.

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Thompson, Philip, Ian Logan, Charles Tomson, Neil Sheerin, and Timothy Ellam. "Obesity, Sex, Race, and Early Onset Hypertension." Hypertension 76, no. 3 (September 2020): 859–65. http://dx.doi.org/10.1161/hypertensionaha.120.15557.

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Investigation for secondary causes is recommended in early onset hypertension. However, obesity is associated with higher blood pressure (BP), so investigation for alternative secondary causes may not be necessary in all obese patients. We sought to define a rational approach to investigation across strata of age, body mass index (BMI) sex and race, based on BP distributions in the US National Health and Nutrition Examination Surveys 2005 to 2016. The majority (71% [95% CI, 59%–79%] and 64% [95% CI, 57%–69%] by European and US definitions respectively) of early onset hypertension cases were attributable to BP distribution shifts accompanying obesity and male sex. Male versus female sex, BMI>40 versus 18.2<BMI≤25 and Black versus White race were accompanied by adjusted mean systolic BP differences of 9 (95% CI, 8–9) mm Hg, 13 (95% CI, 12–15) mm Hg, and 3 (95% CI, 2–4) mm Hg respectively. Normal BMI women above the age cutoff for investigation were less likely to be hypertensive than obese younger men meeting current investigation criteria ( P <0.001). Targeting investigations to combinations of sex, BMI, and age with low hypertension prevalence would reduce the number investigated while still identifying as many secondary cases. Limiting investigations to patients with a BP exceeded by ≤5% of their respective sex/BMI/age category would give investigation thresholds ranging from ≥130/≥80 and ≥140/≥90 for normal BMI women and men, respectively, at age 20 to 30 years, to ≥160/≥100 and ≥170/≥105 for women and men with BMI ≥40 at age 30 to 40 years. In conclusion, we propose refined strategies for investigation of early onset hypertension in the context of an obesity epidemic.

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Reitz, Christiane, Ekaterina Rogaeva, and Gary W. Beecham. "Late-onset vs nonmendelian early-onset Alzheimer disease." Neurology Genetics 6, no. 5 (October 2020): e512. http://dx.doi.org/10.1212/nxg.0000000000000512.

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There is mounting evidence that only a small fraction of early-onset Alzheimer disease cases (onset <65 years) are explained by known mutations. Even multiplex families with early onset often also have late-onset cases, suggesting that the commonly applied categorization of Alzheimer disease into early- and late-onset forms may not reflect distinct underlying etiology. Nevertheless, this categorization continues to govern today's research and the design of clinical trials. The aim of this review is to evaluate this categorization by providing a comprehensive, critical review of reported clinical, neuropathologic, and genomic characteristics of both onset-based subtypes and explore potential overlap between both categories. The article will lay out the need to comprehensively assess the phenotypic, neuropathologic, and molecular variability in Alzheimer disease and identify factors explaining the observed significant variation in onset age in persons with and without known mutations. The article will critically review ongoing large-scale genomic efforts in Alzheimer disease research (e.g., Alzheimer Disease Sequencing Project, Dominantly Inherited Alzheimer Network, Alzheimer Disease Neuroimaging Initiative) and their shortcomings to disentangle the delineation of unexplained nonmendelian early-onset from late-onset and mendelian forms of Alzheimer disease. In addition, it will outline specific approaches including epigenetic research through which a comprehensive characterization of this delineation can be achieved.

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Wu, Liyong, Pedro Rosa-Neto, Ging-Yuek R. Hsiung, A. Dessa Sadovnick, Mario Masellis, Sandra E. Black, Jianping Jia, and Serge Gauthier. "Early-Onset Familial Alzheimer's Disease (EOFAD)." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 39, no. 4 (July 2012): 436–45. http://dx.doi.org/10.1017/s0317167100013949.

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Early-onset familial Alzheimer's disease (EOFAD) is a condition characterized by early onset dementia (age at onset < 65 years) and a positive family history for dementia. To date, 230 mutations in presenilin (PS1, PS2) and amyloid precursor protein (APP) genes have been identified in EOFAD. The mutations within these three genes (PS1/PS2/APP) affect a common pathogenic pathway in APP synthesis and proteolysis, which lead to excessive production of amyloid β. Compared with sporadic Alzheimer's disease (AD), EOFAD has some distinctive features including early age at onset, positive familial history, a variety of non-cognitive neurological symptoms and signs, and a more aggressive course. There is marked phenotypic heterogeneity among different mutations of EOFAD. Studies in presymptomatic mutation carriers reveal biomarkers abnormalities. EOFAD diagnosis is based on clinical and family history, neurological symptoms and examination, biomarker features, as well as genotyping in some cases. New therapeutic agents targeting amyloid formation may benefit EOFAD individuals.

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MONTILLA, CARLOS, JAVIER DEL PINO-MONTES, EDUARDO COLLANTES-ESTEVEZ, PILAR FONT, PEDRO ZARCO, JUAN MULERO, JORDI GRATACÓS, et al. "Clinical Features of Late-onset Ankylosing Spondylitis: Comparison with Early-onset Disease." Journal of Rheumatology 39, no. 5 (March 15, 2012): 1008–12. http://dx.doi.org/10.3899/jrheum.111082.

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Objective.Ankylosing spondylitis (AS) is generally observed in young patients but can occur later in life or in persons ≥ 50 years of age. Our objective was to characterize the clinical features of late-onset AS in a large multicenter national cohort.Methods.We studied late-onset AS in the National Registry of Spondyloarthritis of the Spanish Society of Rheumatology (REGISPONSER database) cohort (n = 1257), of whom 3.5% had onset at age ≥ 50 years versus a control group with onset at < 50 years.Results.There were no differences between late-onset and early-onset AS according to sex and family history of spondyloarthropathies. Patients in the late-onset group more often showed involvement of the cervical spine (22.7% vs 9.7%; p = 0.03) and arthritis of the upper (13.6% vs 3.0%; p = 0.002) and lower limbs (27.3% vs 15.2%; p = 0.03) as first manifestations than did patients in the early-onset group. A higher percentage of mixed forms (axial and peripheral joint disease) during the course of the disease was also recorded in the late-onset group (50% vs 24%; p = 0.0001).Conclusion.Our study suggests that age at onset of AS affects the patients’ presenting clinical form. Arthritis of the upper limbs requires a differential diagnosis with other conditions frequent in patients over 50 years of age, such as rheumatoid arthritis or crystal-induced arthropathy.

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Ha, Dae-Lyong, Geun-Hwi Park, Hoon-Soo Kim, Hyun-Chang Ko, Moon-Bum Kim, Kyoung-Min Lim, and Byung-Soo Kim. "Clinical and Laboratory Differences Between Early-Onset and Late-Onset Adult Atopic Dermatitis." Journal of Cutaneous Medicine and Surgery 24, no. 4 (April 22, 2020): 360–66. http://dx.doi.org/10.1177/1203475420921385.

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Background Atopic dermatitis (AD) in adults is not uncommon, and its prevalence has been increasing in the recent decades. However, there is a paucity of data about the differences between early-onset and late-onset adult AD. Objective The objective of this study is to investigate the clinical and laboratory characteristics of adult AD, focusing on the differences between early-onset and late-onset adult AD. Methods We retrospectively reviewed the medical records and clinical photos of 214 adult AD patients (≥18 years of age) over a 3-year period. We classified the patients into 2 groups: early-onset (first onset of AD before 12 years of age) and late-onset (first onset of AD at 12 years of age or later). Results Among 214 patients, 151 patients (70.6%) belonged to the early-onset group (mean age 24.5 years), while 63 patients belonged to the late-onset group (mean age 29.5 years). An association with allergic asthma or rhinitis, a family history of atopic disease, elevated total serum IgE, and sensitivity to food allergens were more commonly seen in the early-onset group. The late-onset group had a significant likelihood of nonflexural involvement (38.1% vs 13.2%). There was no significant difference in the mean eczema area severity index score, eosinophil count, and sensitivity to aeroallergens between 2 groups. Conclusion Adult AD shows different clinical and laboratory characteristics depending on the age of onset. This study could help to create awareness about the heterogeneity of AD in adulthood and encourage further studies on clinical outcomes and different therapeutic methods depending on the age of onset.

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Kanwar, Amrinder J., Rahul Mahajan, and Davinder Parsad. "Effect of Age at Onset on Disease Characteristics in Vitiligo." Journal of Cutaneous Medicine and Surgery 17, no. 4 (July 2013): 253–58. http://dx.doi.org/10.2310/7750.2013.12075.

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Background: Vitiligo is a multifactorial disease in which genetic, immunologic, and environmental factors play an important part. Late-onset vitiligo is a poorly defined entity. Materials and Methods: Case records of patients who attended the pigmentary clinic at our institute from January 2001 to December 2010 were reviewed. Patients with a diagnosis of vitiligo were analyzed with respect to their demographic characteristics with special reference to their age at onset. Results: Patients with disease onset after 30 years had a significantly higher association with precipitating factors such as trauma, stress, and drugs in comparison with early-onset vitiligo ( p < .004). However, the difference did not reach statistical significance when these factors were analyzed individually. There was a significantly higher association with other nonautoimmune diseases ( p = .05), a higher incidence of positive family history ( p < .0001), and a higher association with leukotrichia ( p < .002) in late-onset disease. Early-onset nonsegmental vitiligo was associated with a higher incidence of photosensitivity and pruritus compared to early-onset segmental vitiligo. Conclusion: Late-onset vitiligo has certain distinguishing features compared to early-onset vitiligo.

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Anholt, G. E., I. M. Aderka, A. J. L. M. van Balkom, J. H. Smit, K. Schruers, N. J. A. van der Wee, M. Eikelenboom, V. De Luca, and P. van Oppen. "Age of onset in obsessive–compulsive disorder: admixture analysis with a large sample." Psychological Medicine 44, no. 1 (March 20, 2013): 185–94. http://dx.doi.org/10.1017/s0033291713000470.

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BackgroundResearch into age of onset in obsessive–compulsive disorder (OCD) has indicated significant differences between patients with early and late onset of the disorder. However, multiple criteria have been used arbitrarily for differentiating between early- and late-onset OCD, rendering inconsistent results that are difficult to interpret.MethodIn the current study, admixture analysis was conducted in a sample of 377 OC patients to determine the number of underlying populations of age of onset and associated demographic and clinical characteristics. Various measures of anxiety, depression, co-morbidity, autism, OCD, tics and attention deficit hyperactivity disorder (ADHD) symptoms were administered.ResultsA bimodal age of onset was established and the best-fitting cut-off score between early and late age of onset was 20 years (early age of onset ⩽19 years). Patients with early age of onset were more likely to be single. Early age of onset patients demonstrated higher levels of OCD severity and increased symptoms on all OCD dimensions along with increased ADHD symptoms and higher rates of bipolar disorder.ConclusionsIt is suggested that 20 years is the recommended cut-off age for the determination of early versus late age of onset in OCD. Early age of onset is associated with a generally graver OCD clinical picture and increased ADHD symptoms and bipolar disorder rates, which may be related to greater functional implications of the disorder. We propose that age of onset could be an important marker for the subtyping of OCD.

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Smaoui, N., L. Zouari, N. Charfi, M. Maâlej-Bouali, N. Zouari, J. Ben Thabet, and M. Maâlej. "Early and Late Onset Bipolar Disorders in Older Adults." European Psychiatry 41, S1 (April 2017): S211. http://dx.doi.org/10.1016/j.eurpsy.2017.01.2179.

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IntroductionAge of onset of illness may be useful in explaining the heterogeneity among older bipolar patients.ObjectiveTo examine the relationship of age of onset with clinical, demographic and behavioral variables, in older patients with bipolar disorder.MethodsThis was a cross-sectional, descriptive and analytical study, including 24 patients suffering from bipolar disorders, aged 65 years or more and followed-up in outpatient psychiatry unit at Hedi Chaker university hospital in Sfax in Tunisia. We used a standardized questionnaire including socio-demographic, behavioral and clinical data. Age of onset was split at age 40 years into early-onset (< 40 years; n = 12) and late-onset (≥ 40 years; n = 12) groups.ResultsThe mean age for the entire sample was 68.95 years. The mean age of onset was 39.95 years. The majority (60%) of patients were diagnosed with bipolar I. Few meaningful differences emerged between early-onset and late-onset groups, except that tobacco use was significantly higher in the late-onset group (66.6% vs. 16.6%; P = 0.027). No significant differences between the early-onset and late-onset groups were seen on demographic variables, family history and number of medical diagnoses or presence of psychotic features.ConclusionOur study found few meaningful behavioral differences between early versus late age at onset in older adults with bipolar disorder.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Elhusein, Bushra, Omer Bakri Mahgoub, and Abdalla Khairi. "Early-onset dementia: diagnostic challenges." BMJ Case Reports 13, no. 3 (March 2020): e233460. http://dx.doi.org/10.1136/bcr-2019-233460.

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A 56-year-old man was brought to our hospital by his family, seeking medical treatment for the patient’s long-standing progressive word-finding difficulties, forgetfulness, agitation and social withdrawal. After multiple previous physician consultations, the patient was mistakenly diagnosed with epilepsy and prescribed multiple anticonvulsants, to which his above mentioned symptoms were unresponsive. His condition progressed over the next 10 years, resulting in severe cognitive impairments and a complete dysfunctionality. An electroencephalogram (EEG) assessment revealed persistent spike and wave activity in the left temporal lobe. Brain MRI revealed multiple small bright T2 and fluid attenuated inversion recovery (FLAIR) foci within the white matter of both cerebral hemispheres surrounding the ventricular system, as well as some widening of extra-axial cerebrospinal fluid spaces. The patient was finally diagnosed with early-onset dementia and temporal lobe epileptiform abnormalities. This case emphasises the need for diagnostic consideration of dementia in cognitively impaired patients, even when they are not of an advanced age.

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Untu, Ilinca, Stefana Maria Moisa, Stefan Lucian Burlea, Anamaria Ciubara, Vasile Valeriu Lupu, and Dana-Teodora Anton-Paduraru. "VERY EARLY AND EARLY ONSET SCHIZOPHRENIA SPECTRUM DISORDERS – DIAGNOSTIC CHALLENGE." Romanian Journal of Pediatrics 64, no. 1 (March 31, 2015): 24–27. http://dx.doi.org/10.37897/rjp.2015.1.5.

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Very early onset and early onset schizophrenia – which manifest themselves before the age of 13 (the first) and 18 (the latter) – represent a little explored nosological entity, which entails a genuine diagnostic challenge, considering the specificities of young age. At the same time, childhood and adolescence onset schizophrenia intertwines with a series of neurocognitive development disorders, comprising an important genetic susceptibility. The entire context of its emergence, the difficulty of detecting psycho-productive symptoms during early childhood, the severity of symptoms and the chronicization impose a rigorous diagnostic behavior and a multidisciplinary approach for optimal long-term therapy and for the socio-professional integration of patients. This paper aims at synthesizing the literature review, which may represent a starting point for ample future research; the purpose is to create specific guides on childhood and adolescence schizophrenia.

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Rademakers, Rosa, Marc Cruts, and Christine Van Broeckhoven. "Genetics of Early-Onset Alzheimer Dementia." Scientific World JOURNAL 3 (2003): 497–519. http://dx.doi.org/10.1100/tsw.2003.39.

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Alzheimer�s dementia (AD) is the most common degenerative disorder of the central nervous system. Although the onset of dementia is above 65 years of age in the majority of the patients (late-onset AD, LOAD), a small subgroup of patients develops AD before 65 years of age (early-onset AD, EOAD). To date 3 genes responsible for EOAD have been identified: the amyloid precursor protein gene (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2). PSEN1 is the most frequently mutated EOAD gene with a mutation frequency of 18 to 50% in autosomal dominant EOAD. In addition, the e4 allele of the gene encoding apolipoprotein E (APOE) was identified as a risk factor for both LOAD and EOAD. Many studies reported other susceptibility genes, but the APOE?4 alelle has been the only risk factor that was consistently replicated in all AD populations. Extensive cell biology research in the past ten years led to the hypothesis that the 4 EOAD genes lead to AD through a common biological pathway resulting in abnormal APP processing by subtle different mechanisms. Now, transgenic mice are produced to study the influence of EOAD mutations in vivo, eventually leading to the development of novel therapeutic strategies.

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Van Duijn, Cornelia M., Christine Van Broeckhoven, John A. Hardy, Alison M. Goate, Martin N. Rossor, Anton Vandenberghe, J.-J. Martin, Albert Hofman, and Michael J. Mullan. "Evidence for Allelic Heterogeneity in Familial Early-Onset Alzheimer's Disease." British Journal of Psychiatry 158, no. 4 (April 1991): 471–74. http://dx.doi.org/10.1192/bjp.158.4.471.

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Age of onset was examined for 139 members of 30 families affected by early-onset AD. Most (77%) of the variance of age of onset derived from differences between rather than within families. The constancy of age of onset within families was also observed in an analysis restricted to families derived from a population-based epidemiological study with complete ascertainment of early-onset AD. Furthermore, we observed clustering of age of onset within those families that support linkage to the predisposing locus on chromosome 21. Our data are compatible with the view that allelic heterogeneity at the AD locus may account for the similarity in age of onset within families. This finding may be of value for scientific studies of AD as well as for genetic counselling.

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Koedam, Esther L. G. E., Vivian Lauffer, Annelies E. van der Vlies, Wiesje M. van der Flier, Philip Scheltens, and Yolande A. L. Pijnenburg. "Early-Versus Late-Onset Alzheimer's Disease: More than Age Alone." Journal of Alzheimer's Disease 19, no. 4 (March 11, 2010): 1401–8. http://dx.doi.org/10.3233/jad-2010-1337.

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Unsworth, Sharon. "Assessing Age of Onset Effects in (Early) Child L2 Acquisition." Language Acquisition 20, no. 2 (April 2013): 74–92. http://dx.doi.org/10.1080/10489223.2013.766739.

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Grayson, Louise, and Alan Thomas. "A systematic review comparing clinical features in early age at onset and late age at onset late-life depression." Journal of Affective Disorders 150, no. 2 (September 2013): 161–70. http://dx.doi.org/10.1016/j.jad.2013.03.021.

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Lumish, Melissa Amy, Shalom Sabwa, Steven Brad Maron, Geoffrey Yuyat Ku, David H. Ilson, Elizabeth Won, Jia Li, et al. "Clinical and molecular characteristics of early-onset versus average-onset esophagogastric cancer." Journal of Clinical Oncology 39, no. 3_suppl (January 20, 2021): 250. http://dx.doi.org/10.1200/jco.2021.39.3_suppl.250.

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250 Background: While the rate of esophagogastric (EG) cancer is declining, early onset (EO) gastric cancer prior to age 50 is rising. It is unknown whether EO-EG cancer represents a distinct entity. This study investigates the clinical and molecular characteristics of EO compared with average onset (AO)-EG cancers. Methods: We reviewed clinical and molecular features of gastric (G), esophageal (E) and gastroesophageal junction (GEJ) cancer in patients treated at MSKCC between 2005 and 2018. We defined early onset as age < 49, based on the age cutoff for urgent endoscopy referral. Clinical symptoms at diagnosis, primary tumor location, histology, HER2 and MSI status and molecular alterations were compared using Fisher’s exact test. Benjamini-Hochberg method was used to decrease the false discovery rate. Results: We analyzed 738 pts with EG cancer (age < 49 n=151; age >50 n=587). Race and sex were different with more Asian (19% vs. 9%), fewer Caucasian (62% vs. 81%) ( P<0.001) and more female patients (40% vs. 29%, P=0.014) in the EO group. Time from symptom onset to diagnosis was longer in the EO group (median (IQR) 144 d (66-276) vs. 75 d (34-136), P=0.009), though stage did not differ ( P=0.49). Patients with EO-EG cancer had less weight loss ( P<0.001), but no other distinct presenting symptoms. Primary disease site was different with more gastric in the EO group (66% vs. 55%, P=0.04). Signet-ring histology was more common in the EO group (11% vs. 3%; P=0.0009). ERBB2 amp and MSI-H were similar, with a trend toward more MSI-H in the AO group (ERBB2 amp P=0.88, Q=0.830; MSI-H P=0.0157, Q=0.056). The most frequent somatic alterations were similar in EO vs. AO pts, including TP53 (68% vs. 70%, P=0.370, Q=0.825), CDH1 (15% vs. 11%, P=0.139, Q=0.825), RHOA (6% vs. 5%, P=0.395, Q=0.825). There was a trend toward more ARID1A (19% vs. 7%, P<0.01, Q=0.250) and FBWX7 (5% vs. 2%, P=139, Q=0.825) mutations in the AO group. Conclusions: Presenting symptoms, stage, histology, HER2 and MSI status are similar in patients with EO vs. AO-EG cancer. There is a trend in EO toward longer time to diagnosis, gastric primary site of disease, signet-ring histology and fewer ARID1A and FBWX7 mutations. Expanded clinical and molecular data will be presented. [Table: see text]

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Boyd, Jemma, Fionnuala McKiernan, and Glen Waller. "Early-onset and late-onset depression in older adults: psychological perspectives." Reviews in Clinical Gerontology 10, no. 2 (May 2000): 149–59. http://dx.doi.org/10.1017/s0959259800000265.

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Depression is the most common mental health problem in old age, presenting a significant challenge to mental health services for older adults. The high chronicity, relapse and mortality rates associated with late-life depression suggest that existing treatments for late-life depression are insufficient. Therefore, current theoretical understandings may require further development. Given the growing population of older adults, the need to improve our understanding of late-life depression is increasingly urgent.

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Shuch, Brian, Srinivas Vourganti, Lindsay Middleton, and W. Marston Linehan. "Defining early-onset kidney cancer: Implications for genetic counseling." Journal of Clinical Oncology 31, no. 6_suppl (February 20, 2013): 342. http://dx.doi.org/10.1200/jco.2013.31.6_suppl.342.

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342 Background: Approximately 1-4% of renal cell carcinoma (RCC) is hereditary. No guidelines exist for patient selection for RCC genetic counseling. We evaluate how age of onset could guide referral for genetic testing. Methods: We analyzed the age distribution of RCC cases in the Surveillance and Epidemiology and End Results (SEER-17) program and from our institutional hereditary kidney cancer population. The age distributions were compared by sex, race, histology, and hereditary syndrome. Models were established to evaluate the specific age thresholds for genetic counseling. Results: The median age of RCC in SEER-17 was 64 years old with the distribution closely approaching normalcy. Statistical differences were observed by race, sex, and subtype (p < 0.05). The bottom decile overall was 46 years of age and slightly differed by sex, race, and histology. The mean and median age of 608 cases of hereditary kidney cancer was 39.3 and 37 years old. While age varied by specific syndrome, 70% of the hereditary cases lied below the bottom age decile. Modeling demonstrated that age alone could limit the number of patients for counseling and that the 10th percentile maximized sensitivity and specificity. Conclusions: Besides associated clinical manifestations and personal/family history, early age of onset in RCC could be a sign of a hereditary kidney cancer. In the absence of clinical signs, an age of onset ≤46 should trigger referral for genetic counseling and may serve as a useful cutoff when establishing genetic testing guidelines.

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Howard, Robert, David Castle, Simon Wessely, and Robin Murray. "A Comparative Study of 470 Cases of Early-Onset and Late-Onset Schizophrenia." British Journal of Psychiatry 163, no. 3 (September 1993): 352–57. http://dx.doi.org/10.1192/bjp.163.3.352.

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The presence or absence of 22 schizophrenic symptoms was recorded with the age at onset of illness in 470 patients with non-affective, non-organic psychoses. Positive and negative formal thought disorder, affective symptoms, inappropriate affect, delusions of grandiosity or passivity, primary delusions other than delusional perception, and thought insertion and withdrawal were all more common in early-onset cases (age at onset 44 years or less;n= 336). Persecutory delusions with and without hallucinations, organised delusions, and third-person, running commentary and accusatory or abusive auditory hallucinations were all more common in late-onset cases (age at onset 45 years or more;n= 134). There was no difference between cases of early and late onset in the prevalence of delusions of reference, bizarre delusions, delusional perception, or lack of insight. We conclude that although there are clinical similarities between cases of schizophrenia with early and late onset, there are sufficient differences between them to suggest that they are not phenotypically homogeneous.

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Vinokur, D., S. Z. Levine, D. Roe, A. Krivoy, and T. Fischel. "Age of onset group characteristics in forensic patients with schizophrenia." European Psychiatry 29, no. 3 (March 2014): 149–52. http://dx.doi.org/10.1016/j.eurpsy.2012.11.006.

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AbstractThis study aims to empirically identify age of onset groups and their clinical and background characteristics in forensic patients with schizophrenia. Hospital charts were reviewed of all 138 forensic patients with schizophrenia admitted to Geha Psychiatric Hospital that serves a catchment area of approximately 500,000 people, from 2000 to 2009 inclusive. Admixture analysis empirically identified early- (M = 19.99, SD = 3.31) and late-onset groups (M = 36.13, SD = 9.25). Early-onset was associated with more suicide attempts, violence before the age of 15, and early conduct problems, whereas late-onset was associated with a greater likelihood of violence after the age of 18 and marriage (P < 0.01). The current findings provide clinicians with a unique direction for risk assessment and indicate differences in violence between early- and late-onset schizophrenia, particularly co-occurrence of harmful behavioral phenotypes.

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Imbert-Bouteille, Marion, Carole Corsini, Marie-Christine Picot, Lucas Mizrahy, Sandrine Akouete, Helena Huguet, Frédéric Thomas, et al. "No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families." Genes 12, no. 7 (July 20, 2021): 1100. http://dx.doi.org/10.3390/genes12071100.

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According to clinical guidelines, the occurrence of very early-onset breast cancer (VEO-BC) (diagnosed ≤ age 30 years) or VEO ovarian cancer (VEO-OC) (diagnosed ≤ age 40 years) in families with BRCA1 or BRCA2 mutation (BRCAm) prompts advancing the age of risk-reducing strategies in relatives. This study aimed to assess the relation between the occurrence of VEO-BC or VEO-OC in families with BRCAm and age at BC or OC diagnosis in relatives. We conducted a retrospective multicenter study of 448 consecutive families with BRCAm from 2003 to 2018. Mean age and 5-year–span distribution of age at BC or OC in relatives were compared in families with or without VEO-BC or VEO-OC. Conditional probability calculation and Cochran–Mantel–Haenszel chi-square tests were used to investigate early-onset cancer occurrence in relatives of VEO-BC and VEO-OC cases. Overall, 15% (19/245) of families with BRCA1m and 9% (19/203) with BRCA2m featured at least one case of VEO-BC; 8% (37/245) and 2% (2/203) featured at least one case of VEO-OC, respectively. The cumulative prevalence of VEO-BC was 5.1% (95% CI 3.6–6.6) and 2.5% (95% CI 1.4–3.6) for families with BRCA1m and BRCA2m, respectively. The distribution of age and mean age at BC diagnosis in relatives did not differ by occurrence of VEO-BC for families with BRCA1m or BRCA2m. Conditional probability calculations did not show an increase of early-onset BC in VEO-BC families with BRCA1m or BRCA2m. Conversely, the probability of VEO-BC was not increased in families with early-onset BC. VEO-BC or VEO-OC occurrence may not be related to young age at BC or OC onset in relatives in families with BRCAm. This finding—together with a relatively high VEO-BC risk for women with BRCAm—advocates for MRI breast screening from age 25 regardless of family history.

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Murray, Aja Louise, Tom Booth, Bonnie Auyeung, Manuel Eisner, Denis Ribeaud, and Ingrid Obsuth. "Outcomes of ADHD Symptoms in Late Adolescence: Are Developmental Subtypes Important?" Journal of Attention Disorders 24, no. 1 (August 22, 2018): 113–25. http://dx.doi.org/10.1177/1087054718790588.

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Objective: Substantial individual variation exists in the age of onset and course of ADHD symptoms over development. We evaluated whether, within this variation, meaningful developmental subtypes can be defined. Method: Using growth mixture modeling in a community-based sample ( N = 1,571), we analyzed ADHD symptom trajectories based on measures taken at ages 7, 8, 9, 10, 11, 13, and 15 years. We evaluated whether those showing developmental trajectories characterized by later onsets versus early onsets differed in terms of mental health and behavioral outcomes in late adolescence (age 17 years). Result: The late onset category was best conceptualized as a milder subtype than early onset. The former was, however, more similar in outcomes to the latter than to the unaffected category, suggesting that later onsets are still associated with impairment. Conclusion: Considering diagnoses for those affected by ADHD symptoms but who do not meet current age of onset criteria may be important for ensuring that they receive appropriate support.

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Mah, Jean K., Jia Feng, Marni B. Jacobs, Tina Duong, Kate Carroll, Katy de Valle, Cara L. Carty, et al. "A multinational study on motor function in early-onset FSHD." Neurology 90, no. 15 (March 14, 2018): e1333-e1338. http://dx.doi.org/10.1212/wnl.0000000000005297.

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ObjectivesTo investigate motor function associations with age, sex, and D4Z4 repeats among participants with early-onset facioscapulohumeral muscular dystrophy (FSHD) type 1 as defined by weakness onset before 10 years of age.MethodsWe collected standardized motor assessments, including manual muscle testing (MMT), quantitative muscle testing, functional motor evaluations, and clinical severity scores (CSSs), at 12 Cooperative International Neuromuscular Research Group centers. To measure associations, we used linear regression models adjusted for sex, evaluation age, age at onset of weakness, and D4Z4 repeats.ResultsAmong 52 participants (60% female, mean age 22.9 ± 14.7 years), weakness was most pronounced in the shoulder and abdominal musculature. Older enrollment age was associated with greater CSSs (p = 0.003). When adjusted for enrollment age, sex, and D4Z4 repeats, younger age at onset of facial weakness was associated with greater CSSs, slower velocities in timed function tests, and lower MMT scores (p < 0.05).ConclusionSignificant clinical variability was observed in early-onset FSHD. Earlier age at onset of facial weakness was associated with greater disease severity. Longitudinal assessments are needed to determine the rate of disease progression in this population.

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Ortega-Orozco, Areta, Gabriela Orozco-Calderón, Maura J. Ramírez-Flores, and Azucena Lozano- Gutiérrez. "Age of onset in musical practice on cognitive functioning." Journal of Basic and Applied Psychology Research 1, no. 2 (January 5, 2020): 1–6. http://dx.doi.org/10.29057/jbapr.v1i2.5363.

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Musical processing has been described as a structural and functional plasticity model in which the areas involved and the connections are modified, these changes depend on several variables, including the start of training. The study of music as a neuropsychological phenomenon has become important because it provides information about the possible cognitive benefits. Objective: Describe and compare how musical practice Describe and compare how musical practice affects cognitive functioning in musicians who began their training at an early and late age.affects cognitive functioning in musicians who began their training at an early and late age. Method: Three groups were formed: A group of early professional musicians, a group of late-start professional musicians and a non-musicians control group. The NEUROPSI battery attention and memory were applied individually. Results: In a descriptive way, it was found that the performance profiles of the three groups behave differently and significant differences were found in memory, attention, executive functions and musical perception, especially among musicians who started before adolescence vs non-musicians. Conclutsions: Early musical practice has a favorable impact on tasks that involve attentional processes, executive functions and memory, although the practice can be beneficial throughout life.

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Azadmehr, Hedieh, André Rupp, Martin Andermann, Dinka Pavicic, Kerstin Herwig, Matthias Weisbrod, Franz Resch, and Rieke Oelkers-Ax. "Object recognition deficit in early- and adult-onset schizophrenia regardless of age at disease onset." Psychiatry Research: Neuroimaging 214, no. 3 (December 2013): 452–58. http://dx.doi.org/10.1016/j.pscychresns.2013.08.010.

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Haouala, A. Ben, B. Amamou, M. Allègue, F. Zaafrane, and F. Gaha. "Age at onset of bipolar disorders: clinical implication and prognosis of early and late onset." European Neuropsychopharmacology 26 (October 2016): S429. http://dx.doi.org/10.1016/s0924-977x(16)31404-3.

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Javaid, Naima, James L. Kennedy, and Vincenzo De Luca. "Ethnicity and Age at Onset in Bipolar Spectrum Disorders." CNS Spectrums 16, no. 6 (June 2011): 127–34. http://dx.doi.org/10.1017/s1092852912000296.

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AbstractIntroductionTo determine the influence of ethnicity on the age at onset (AAO) and further understand the significance of AAO as a clinical marker of bipolar and schizoaffective disorders.MethodsAdmixture analysis was used to identify sub-groups characterized by differences in AAO. Differences in clinical features were analyzed for these sub-groups using multivariate logistic regression. Comparisons were made with previous studies using the 2-Sample Kolmogorov-Smirnov Test.ResultsAdmixture analysis yielded a combination of 2 normal theoretical distributions with means (SD) of 16.9 (3.6) for the early-onset sub-group and 24.4 (9.2) years for the late-onset sub-group. The sub-groups were divided by a cut-off of 22 years. There were significant differences between the early and late onset bipolar patient populations regarding substance abuse comorbidity (P=.044) and psychotic features (P=.015). Ethnicity did not have a significant influence on the AAO.DiscussionThe associations between early-onset and higher incidence of psychosis and substance abuse in our sample are consistent with other studies exploring the AAO in bipolar disorder.ConclusionOur findings support the notion of AAO as a clinical marker for the underlying heterogeneity of bipolar spectrum disorders. In particular, we found a strong overlap of early AAO with clinical features associated with greater severity and poor outcome.

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Fontes, Maria Alice, Karen I. Bolla, Paulo Jannuzzi Cunha, Priscila Previato Almeida, Flávia Jungerman, Ronaldo Ramos Laranjeira, Rodrigo A. Bressan, and Acioly L. T. Lacerda. "Cannabis use before age 15 and subsequent executive functioning." British Journal of Psychiatry 198, no. 6 (June 2011): 442–47. http://dx.doi.org/10.1192/bjp.bp.110.077479.

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BackgroundMany studies have suggested that adolescence is a period of particular vulnerability to neurocognitive effects associated with substance misuse. However, few large studies have measured differences in cognitive performance between chronic cannabis users who started in early adolescence (before age 15) with those who started later.AimsTo examine the executive functioning of individuals who started chronic cannabis use before age 15 compared with those who started chronic cannabis use after 15 and controls.MethodWe evaluated the performance of 104 chronic cannabis users (49 early-onset users and 55 late-onset users) and 44 controls who undertook neuropsychological tasks, with a focus on executive functioning. Comparisons involving neuropsychological measures were performed using generalised linear model analysis of variance (ANOVA).ResultsThe early-onset group showed significantly poorer performance compared with the controls and the late-onset group on tasks assessing sustained attention, impulse control and executive functioning.ConclusionsEarly-onset chronic cannabis users exhibited poorer cognitive performance than controls and late-onset users in executive functioning. Chronic cannabis use, when started before age 15, may have more deleterious effects on neurocognitive functioning.

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Alameda-Bailén, Jose Ramón, Pilar Salguero-Alcañiz, Ana Merchán-Clavellino, and Susana Paíno-Quesada. "Age of onset of cannabis use and decision making under uncertainty." PeerJ 6 (July 3, 2018): e5201. http://dx.doi.org/10.7717/peerj.5201.

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Objective Cannabis, like other substances, negatively affects health, inducing respiratory problems and mental and cognitive alterations. Memory and learning disorders, as well as executive dysfunctions, are also neuropsychological disorders associated to cannabis use. Recent evidence reveals that cannabis use during adolescence may disrupt the normal development of the brain. This study is aimed to analyze possible differences between early-onset and late-onset cannabis consumers. Method We used a task based on a card game with four decks and different programs of gains/losses. A total of 72 subjects (19 women; 53 men) participated in the study; they were selected through a purposive sampling and divided into three groups: early-onset consumers, late-onset consumers, and control (non-consumers). The task used was the “Cartas” program (computerized version based on the Iowa Gambling Task (IGT)), with two versions: direct and inverse. The computational model “Prospect Valence Learning” (PVL) was applied in order to describe the decision according to four characteristics: utility, loss aversion, recency, and consistency. Results The results evidence worst performance in the IGT in the early-onset consumers as compared to late-onset consumers and control. Differences between groups were also found in the PVL computational model parameters, since the process of decision making of the early-onset consumers was more influenced by the magnitude of the gains-losses, and more determined by short-term results without loss aversion. Conclusions Early onset cannabis use may involve decision-making problems, and therefore intervention programs are necessary in order to reduce the prevalence and delay the onset of cannabis use among teenagers.

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Lai, Florence, Nathaniel D. Mercaldo, Cassandra M. Wang, Micaela S. Hersch, Giovi G. Hersch, and Herminia Diana Rosas. "Association between Hypothyroidism Onset and Alzheimer Disease Onset in Adults with Down Syndrome." Brain Sciences 11, no. 9 (September 16, 2021): 1223. http://dx.doi.org/10.3390/brainsci11091223.

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Adults with Down syndrome (DS) have an exceptionally high frequency of Alzheimer disease (AD) with a wide variability in onset, from 40 to 70 years of age. Equally prevalent in DS is hypothyroidism. In this study, we sought to quantify the relationship between the two. A total of 232 adults with DS and AD were stratified into three AD onset age groups: early (<47 years), typical (48–59), and late (>59). Among patients with available data, differences in the distributions of demographics, hypothyroidism variables (presence, age of onset), thyroid function tests, thyroid autoantibodies, and APOE genotypes were assessed (e.g., chi-squared, Mann–Whitney tests). Spearman and partial Spearman correlations and ordinal logistic regression models were constructed to quantify the association between ages of AD and hypothyroidism onset with and without covariate adjustments. We observed a positive association between the ages of AD and hypothyroidism onset after accounting for APOE-Ɛ4 (correlation: 0.44, 0.24, 0.60; odds ratio: 1.09, 1.05–1.14). However, an early age of hypothyroidism onset and the presence of the APOE-Ɛ4 allele were independently associated with the early age of AD onset. Similar findings were observed when accounting for other factors. Our study provides evidence for the importance of hypothyroidism and associated pathological mechanisms for risk of AD in DS.

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Wilson, S., B. M. Hicks, K. T. Foster, M. McGue, and W. G. Iacono. "Age of onset and course of major depressive disorder: associations with psychosocial functioning outcomes in adulthood." Psychological Medicine 45, no. 3 (July 10, 2014): 505–14. http://dx.doi.org/10.1017/s0033291714001640.

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BackgroundMajor depressive disorder (MDD) that onsets by adolescence is associated with various deficits in psychosocial functioning. However, adolescent-onset MDD often follows a recurrent course that may drive its associated impairment.MethodTo tease apart these two clinical features, we examined the relative associations of age of onset (adolescent versus adult) and course (recurrent versus single episodes) of MDD with a broad range of psychosocial functioning outcomes assessed in early adulthood. Participants comprised a large, population-based sample of male and female twins from the Minnesota Twin Family Study (MTFS; n = 1252) assessed prospectively from ages 17 to 29 years.ResultsA recurrent course of MDD predicted impairment in several psychosocial domains in adulthood, regardless of whether the onset was in adolescence or adulthood. By contrast, adolescent-onset MDD showed less evidence of impairment in adulthood after accounting for recurrence. Individuals with both an adolescent onset and recurrent episodes of MDD represented a particularly severe group with pervasive psychosocial impairment in adulthood.ConclusionsThe negative implications of adolescent-onset MDD for psychosocial functioning in adulthood seem to be due primarily to its frequently recurrent course, rather than its early onset, per se. The results highlight the importance of considering both age of onset and course for understanding MDD and its implications for functioning, and also in guiding targeted intervention efforts.

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Marsoni, Silvia, Federica Zanardi, Fabio Iannelli, Elisa Salviato, Francesco Ferrari, Paolo Luraghi, Luca Lazzari, et al. "Mutational signatures of early-onset colorectal cancer." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): e15113-e15113. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e15113.

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e15113 Background: Despite a reduction of Colorectal Cancer (CRC) incidence in western countries in the past decades, Early-Onset CRCs (EO-CRC, patients diagnosed with CRC ≤ 40 years old) incidence has increased. Although frequently occurring in the context of familial syndromes, EO-CRCs are mainly sporadic cases and phenotipically enriched for distal localisation and advanced stage at diagnosis. Whether EO-sporadic CRCs pathogenesis differs from that of normal-onset (NO) CRC and how this might impact incidence rates is currently unknown. This had prompted us to ask if, at the genetic level, “traces” of peculiar pathogenic processes could be identified in EO-specific (or -enriched) genetic signatures (GS). Methods: The mutational signatures of 424 TCGA CRC patient samples (19 EO and 405 ≥ 50 years at diagnosis) were analyzed and the similarity between each mutational profile and COSMIC GS was calculated using Bioconductor R package Mutational Patterns (doi: 10.1186/s13073-018-0539-0). Unsupervised hierarchical clustering of the samples according to similarity to GS was performed in single cohort and pooled analysis. Association between age and individual GS was assessed through grouped and linear correlation analysis. Results: EO-CRC patients were grouped in three main clusters: Cluster1 exposing a major similarity with GS10 (associated with defects in polymerase proofreading activity), Cluster2 showing stronger similarities with GS6 (associated with mismatch repair deficiency), and GS1 (associated with 5-MeC deamination) and Cluster3 presenting similarity with multiple GSs, such as 3 (associated with homologous recombination deficiency) and 5 (pathogenesis unknown). Overall this clustering was maintained when EO-CRC samples were pooled with NO CRC. Grouped and correlation analysis revealed no significant association between age and individual GSs, including GS1 (associated with age). Conclusions: These preliminary analyses show that the relative contribution of known GS is similar in EO and NO cohorts of patients. Possible enrichment for EO-CRC in specific signature clusters will be analysed on a wider sample series.

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Helenius, Ilkka J. "Treatment strategies for early-onset scoliosis." EFORT Open Reviews 3, no. 5 (May 2018): 287–93. http://dx.doi.org/10.1302/2058-5241.3.170051.

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Early-onset scoliosis (EOS) is defined as a spinal deformity occurring before the age of ten years. Untreated EOS or early spinal fusion resulting in a short spine is associated with increased mortality and cardiopulmonary compromise. EOS may progress rapidly, and therefore prompt clinical diagnosis and referral to a paediatric orthopaedic or spine unit is necessary. Casting under general anaesthesia can be effective and may prevent or delay the need for surgery in curves of less than 60°. ‘Growing’ rods (traditional or magnetically-controlled) represent the standard surgical treatment in progressive curves of 45° or greater. Children with congenital scoliosis associated with fused ribs benefit from surgery with a vertical titanium prosthetic rib. Surgery with growth-friendly instrumentation is associated with a high risk of complications.Cite this article: EFORT Open Rev 2018;3 DOI: 10.1302/2058-5241.3.170051

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Chen, Tsai, Lin, Lu, Tan, Jang, Gan, and Lin. "Risk Model Assessment in Early-Onset and Adult-Onset Schizophrenia Using Neurological Soft Signs." Journal of Clinical Medicine 8, no. 9 (September 11, 2019): 1443. http://dx.doi.org/10.3390/jcm8091443.

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Age at onset is one of the most important clinical features of schizophrenia that could indicate greater genetic loadings. Neurological soft signs (NSS) are considered as a potential endophenotype for schizophrenia. However, the association between NSS and different age-onset schizophrenia still remains unclear. We aimed to compare risk model in patients with early-onset schizophrenia (EOS) and adult-onset schizophrenia (AOS) with NSS. This study included 262 schizophrenia patients, 177 unaffected first-degree relatives and 243 healthy controls. We estimated the discriminant abilities of NSS models for early-onset schizophrenia (onset age < 20) and adult-onset schizophrenia (onset age ≥ 20) using three data mining methods: artificial neural networks (ANN), decision trees (DT) and logistic regression (LR). We then assessed the magnitude of NSS performance in EOS and AOS families. For the four NSS subscales, the NSS performance were greater in EOS and AOS families compared with healthy individuals. More interestingly, there were significant differences found between patients’ families and control group in the four subscales of NSS. These findings support the potential for neurodevelopmental markers to be used as schizophrenia vulnerability indicators. The NSS models had higher discriminant abilities for EOS than for AOS. NSS were more accurate in distinguishing EOS patients from healthy controls compared to AOS patients. Our results support the neurodevelopmental hypothesis that EOS has poorer performance of NSS than AOS. Hence, poorer NSS performance may be imply trait-related NSS feature in EOS.

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Journal articles on the topic 'Early onset age'

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