Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia

Neurology ◽  
2018 ◽  
Vol 92 (1) ◽  
pp. e19-e29 ◽  
Author(s):  
Nienke J.H. van Os ◽  
Anke Hensiek ◽  
Judith van Gaalen ◽  
Alexander M.R. Taylor ◽  
Marcel van Deuren ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Age At Onset ◽  
Laboratory Data ◽  
Diagnostic Delay ◽  
Adult Onset ◽  
Childhood Onset ◽  
Multisystem Disorder ◽  
Dominant Feature ◽  
Motor Abnormalities ◽  
Cerebellar Symptoms

ObjectiveTo describe and classify the neurologic trajectories in patients with mild neurologic forms of ataxia telangiectasia (A-T) from the Dutch A-T cohort, combined with patients reported in the literature.MethodsClinical, genetic, and laboratory data of 14 patients with mild neurologic phenotypes of A-T from the Dutch cohort were analyzed and combined with corresponding data from the literature. A mild neurologic phenotype was defined by a later onset, nonataxia presenting or dominant feature, or slower progression compared to the classic A-T phenotype. Neurologic trajectories were classified based on age at onset, presenting feature, and follow-up data.ResultsOne hundred five patients were included in the study. Neurologic trajectories were categorized into 6 groups: patients with childhood-onset extrapyramidal (EP) features with cerebellar symptoms developing later (group 1; 18 patients), childhood-onset cerebellar symptoms, with EP features developing later (group 2; 35 patients), childhood- to adolescence-onset dystonia, without cerebellar symptoms (group 3; 23 patients), childhood- to adolescence-onset isolated cerebellar symptoms (group 4; 22 patients), childhood- to adult-onset prominent muscle weakness (group 5; 2 patients), and patients with adult-onset EP features, with anterior horn cell disease arising subsequently (group 6; 5 patients).ConclusionsThis systematic study of the different motor abnormalities and their course over time in patients with mild phenotypes of A-T, enabled us to recognize 6 essentially different phenotypic patterns. Awareness of these different trajectories of motor abnormalities in milder forms of A-T will contribute to a reduction of diagnostic delay in this severe multisystem disorder.

scholarly journals The clinical, metabolic and endocrine features and the quality of life in adults with childhood-onset craniopharyngioma compared with adult-onset craniopharyngioma

2005 ◽  
Vol 152 (4) ◽  
pp. 557-567 ◽  
Author(s):  
Pat Kendall-Taylor ◽  
Peter J Jönsson ◽  
Roger Abs ◽  
Eva Marie Erfurth ◽  
Maria Koltowska-Häggström ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Body Composition ◽  
Diabetes Insipidus ◽  
Age At Onset ◽  
Density Lipoprotein ◽  
Life Assessment ◽  
Adult Onset ◽  
Childhood Onset ◽  
Igf I

Background: Craniopharyngioma is a parasellar tumour that, although benign, tends to behave aggressively. It can occur at any age but most commonly presents in childhood or adolescence. Objectives: To investigate the frequency and severity of problems associated with craniopharyngioma, using the large international database (KIMS) for adult patients with GH deficiency (GHD), and to assess the differences between the adult onset (AO, aged 18 or above) disease and adults with childhood onset (CO) craniopharyngioma. Design: Inclusion criteria were: an established diagnosis of craniopharyngioma, severe GHD and no recent GH treatment. These criteria were fulfilled by 393 (184 female, 209 male) patients; 241 had AO (mean age 28.7±8.7 years) and 152 had CO disease (age 42.0±12.3 years). Disease history, clinical features and anthropometric data were recorded at the time of enrolment in the database, and body composition, serum IGF-I, serum lipids and quality of life (QoL) were assessed. Results: Peak age at onset of craniopharyngioma was 15–20 years. Ninety percent of patients had been treated surgically. CO patients were shorter than AO patients and had much lower IGF-I standard deviation scores (SDS). The majority had hypopituitarism and over 60% had diabetes insipidus. Body mass index (BMI) was higher in AO males (30.2±5.5) than in CO males (28.5±7.5); waist circumference was also greater. Obesity was more common in AO patients (51.8% vs 39.1%). Body composition did not differ between groups. Cholesterol and triglycerides were higher in AO than in CO patients, but high density lipoprotein (HDL)- and low density lipoprotein (LDL)-cholesterol did not differ. Quality of life, assessed by Quality of Life-Assessment of Growth Hormone Deficiency in Adults (QoL-AGHDA) and the Nottingham Health Profile, was markedly reduced in all groups with no significant differences between them; the QoL-AGHDA score correlated with age at onset of both craniopharyngioma and GHD, and also with BMI in AO patients. Conclusions: These data emphasise the generally poor state of health of patients treated for craniopharyngioma, with respect to endocrine and metabolic function, and also the markedly reduced quality of life. In addition to GHD, most patients have evidence of hypothalamic damage with associated obesity, diabetes insipidus and hypopituitarism. Adults with CO craniopharyngioma were shorter, had lower IGF-I, lower BMI, less obesity and slightly lower blood lipid levels than patients with AO craniopharyngioma.

Clinical Characteristics of Childhood-Onset (Juvenile) Huntington Disease: Report of 12 Patients and Review of the Literature

2006 ◽  
Vol 21 (3) ◽  
pp. 223-229 ◽  
Author(s):  
Pedro Gonzalez-Alegre ◽  
Adel K. Afifi
Keyword(s):  
Huntington Disease ◽  
Age At Onset ◽  
Older Age ◽  
Adult Onset ◽  
Childhood Onset ◽  
Genetic Characteristics ◽  
Delay In Diagnosis ◽  
Younger Age ◽  
Neuropsychologic Testing ◽  
Onset Group

Whereas adult-onset Huntington disease is a well-characterized clinical entity, childhood-onset cases have not received as much attention. In this report, the clinical, demographic, and genetic characteristics in 12 patients with childhood-onset Huntington disease are presented and compared with data in the literature. The patients were divided into two groups based on age at onset of symptoms (< 10 or ≥ 10 years old). The majority of patients had onset of symptoms before 10 years of age and most at or below 5 years of age. The delay in diagnosis was longer in those with earlier onset of symptoms. Inheritance was paternal in all patients with onset beyond 10 years of age. We found a preponderance of male patients in the younger age at onset group and of female patients in the older age at onset group. The most frequent heralding symptom was cognitive decline in the group with earlier onset and oropharyngeal dysfunction in the later-onset group. Seizures occurred only in the younger age at onset group. Chorea was not a presenting sign but developed later in the course of the disease and, with dystonia, was more prevalent in the early age at onset group, whereas rigidity and bradykinesia were more prevalent in the older age at onset group. Patients in both groups developed gait, cognitive, and behavioral disorders at some point during the course of the disease. Furthermore, a slow and steady decline in IQ was observed on serial neuropsychologic testing in patients from both groups. Imaging studies were normal early and most commonly revealed neostriatal atrophy later in the course of the disease. In this report, we describe the characteristics of 12 patients with childhood-onset Huntington disease and review those previously reported, expanding our knowledge about the features of childhood-onset Huntington disease, underlining the differences with patients with adult-onset Huntington disease, and suggesting a differential phenotype within patients with childhood-onset Huntington disease depending on the age at onset. ( J Child Neurol 2006;21:223—229; DOI 10.2310/7010.2006.00055).

scholarly journals Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Marco Cattalini ◽  
◽  
Sara Della Paolera ◽  
Fiammetta Zunica ◽  
Claudia Bracaglia ◽  
...  
Keyword(s):  
Kawasaki Disease ◽  
Clinical Laboratory ◽  
Troponin T ◽  
Inflammatory Diseases ◽  
Age At Onset ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Chi Square ◽  
Pediatric Society ◽  
Multicenter Survey

Abstract Background There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group – KDG) or KD-like (Kawacovid Group - KCG) disease between February 1st 2020, and May 31st 2020. Demographic, clinical, laboratory data, treatment information, and patients’ outcome were collected in an online anonymized database (RedCAP®). Relationship between clinical presentation and SARS-CoV-2 infection was also taken into account. Moreover, clinical characteristics of KDG during SARS-CoV-2 epidemic (KDG-CoV2) were compared to Kawasaki Disease patients (KDG-Historical) seen in three different Italian tertiary pediatric hospitals (Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste; AOU Meyer, Florence; IRCCS Istituto Giannina Gaslini, Genoa) from January 1st 2000 to December 31st 2019. Chi square test or exact Fisher test and non-parametric Wilcoxon Mann-Whitney test were used to study differences between two groups. Results One-hundred-forty-nine cases were enrolled, (96 KDG and 53 KCG). KCG children were significantly older and presented more frequently from gastrointestinal and respiratory involvement. Cardiac involvement was more common in KCG, with 60,4% of patients with myocarditis. 37,8% of patients among KCG presented hypotension/non-cardiogenic shock. Coronary artery abnormalities (CAA) were more common in the KDG. The risk of ICU admission were higher in KCG. Lymphopenia, higher CRP levels, elevated ferritin and troponin-T characterized KCG. KDG received more frequently immunoglobulins (IVIG) and acetylsalicylic acid (ASA) (81,3% vs 66%; p = 0.04 and 71,9% vs 43,4%; p = 0.001 respectively) as KCG more often received glucocorticoids (56,6% vs 14,6%; p < 0.0001). SARS-CoV-2 assay more often resulted positive in KCG than in KDG (75,5% vs 20%; p < 0.0001). Short-term follow data showed minor complications. Comparing KDG with a KD-Historical Italian cohort (598 patients), no statistical difference was found in terms of clinical manifestations and laboratory data. Conclusion Our study suggests that SARS-CoV-2 infection might determine two distinct inflammatory diseases in children: KD and PIMS-TS. Older age at onset and clinical peculiarities like the occurrence of myocarditis characterize this multi-inflammatory syndrome. Our patients had an optimal response to treatments and a good outcome, with few complications and no deaths.

scholarly journals Epidemiology of pediatric uveitis and associated systemic diseases

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Yoonkyeom Shin ◽  
Ji-Man Kang ◽  
Junwon Lee ◽  
Christopher Seungkyu Lee ◽  
Sung Chul Lee ◽  
...  
Keyword(s):  
Rheumatic Disease ◽  
Inflammatory Disease ◽  
Pediatric Patients ◽  
Age At Onset ◽  
Laboratory Data ◽  
Categorical Variables ◽  
Hla B27 ◽  
Female Ratio ◽  
Systemic Rheumatic Disease ◽  
Systemic Inflammatory Disease

Abstract Background The early detection of uveitis associated with systemic inflammatory disease in children is important for proper treatment and prognosis. However, the diagnosis may be delayed because of difficulties in childhood examinations and early minor systemic symptoms. The objective of our study was to identify the pattern of childhood uveitis and investigate the frequency and clinical features of rheumatic diseases in pediatric patients with uveitis. Methods This retrospective observational study reviewed the medical records of children (age ≤ 18 years) with uveitis at a Korean tertiary hospital between January 2005 and December 2018. Data collected included the age at onset of uveitis, sex, anatomic location of ocular inflammation, comorbid disease (including systemic inflammatory disease), ocular complications, relevant laboratory data, and treatment. Fisher’s exact test was used to compare categorical variables and the Mann–Whitney U test was used to compare continuous variables. A p-value of < 0.05 was considered statistically significant. Results A total of 155 pediatric patients with uveitis were included in this study. The median age at diagnosis was 13.0 years (interquartile range, 9.5–16.0 years). The male-to-female ratio was 1.09. The process was unilateral in 51.6% of children. Anterior uveitis, panuveitis, intermediate uveitis, and posterior uveitis represented 51.6, 26.5, 6.5, and 1.9% of the cases, respectively. Idiopathic uveitis (65.2%) was the most frequent type of uveitis. Systemic rheumatic disease associations were responsible for 28.4% of the cases, among which juvenile idiopathic arthritis (JIA) was the most frequent cause (14.8%). Human leukocyte antigen (HLA)-B27 and antinuclear antibody (ANA) positive rates were significantly higher in patients with JIA than in those with idiopathic uveitis (p = 0.006 and p = 0.007, respectively). Conclusions Approximately one-third of children with uveitis in Korea have a systemic rheumatic disease, of which JIA accounts for the majority of cases. HLA-B27 and ANA can serve as risk factors for JIA-associated uveitis.

scholarly journals AB0490 IMPACT OF SPONDYLOARTHRITIS ON WORK PRODUCTIVITY: A REAL LIFE STUDY

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1272.1-1272
Author(s):  
M. Ben Majdouba ◽  
S. Boussaid ◽  
S. Rekik ◽  
S. Jemmali ◽  
H. Ajlani ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Age At Onset ◽  
Productivity Loss ◽  
Diagnostic Delay ◽  
Work Productivity ◽  
Symptomatic Treatment ◽  
Work Outcomes ◽  
Joint Involvement ◽  
The Mean

Background:Work productivity of patients with spondyloarthritis is frequently affected by their disease.Objectives:We aim to identify disease-related factors associated with poor work productivity in patients with spondyloarthritis.Methods:A cross-sectional study was performed in patients with spondyloarthritis. Data on disease characteristics were collected as well as specific indices: Visual analogue scale (VAS) for fatigue and pain, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Ankylosing Spondylitis Disease Activity Score with CRP (ASDAS-CRP), Bath Ankylosing Spondylitis Functionnel Index (BASFI) and Bath Ankylosing Spondylitis Metrology Index (BASMI). EuroQol-5D (EQ5D) was used to assess health-related quality of life. Work productivity was assessed by the Work Productivity and Activity Impairment scale (WPAI:SpA). Factors associated with presenteeism, absenteeism and work productivity loss were evaluated.Results:One hundred patients were enrolled (73 men and 27 women); mean age was 43.68 ± 10.3 years. Fifty nine percent of patients were employed, 26% were off work and 15% were retired of which 8% were in early retirement. Sixty seven percent of patients had ankylosing spondylitis, 17% had rheumatism associated with inflammatory bowel disease and 16% had psoriatic rheumatism. The average disease duration was 12.24 ± 8.73 years. Mean age at onset was 33.2 ± 10 years [18-59]. The average diagnostic delay was 2.41 ± 3 years; it was more than five years in 17% of cases. Sacroiliac pain has been noted in 69 patients, lumbar or cervical stiffness in 78 patients and peripheral joint involvement in 18 cases. Thirty one percent of patients had hip joint involvement and 49% had extra-articular manifestation. Fifty percent had inflammatory biological syndrome, 63% were treated with anti-TNFα and 58% needed symptomatic treatment regularly. The mean fatigue and pain VAS was respectively 5.58 ± 2.5 and 5.56 ± 2.9. The mean BASDAI was 4.4 ± 2.4, the average BASFI was 4.6 ± 2.7 and the average ASDAS-CRP was 2.77 ± 1.18. The mean BASMI was 4.4 ± 2.8. The mean EQ5D score was 0.485 ± 0.378. Among employed patients, mean absenteeism, presenteeism and work productivity loss was 21.8 ± 33.13%, 42 ± 32% and 46.5 ± 35.31%, respectively. These work outcomes were correlated to diagnostic delay ≥ 2 years (p<0.03), peripheral joint involvement (p=0.006), psoriasis (p=0.02), inflammatory biological syndrome (p<0.001), need of symptomatic treatment (p=0.001), fatigue and pain VAS ≥ 4 (p<0.001), BASDAI ≥ 4 (p<0.001), ASDAS-CRP ≥ 2.1 (p<0.001), BASFI ≥ 4 (p<0.001), BASMI ≥ 4 (p=0.002) and low EQ5D score (p<0.001). Work productivity loss was in addition correlated to age at onset < 25 years (p=0.03).Conclusion:Active disease, reduced physical function and poorer quality of life are associated with reduced work productivity. Early diagnosis and good disease management especially fatigue and pain can potentially improve work outcomes in patients with spondyloarthritis.Disclosure of Interests:None declared.

Adult-Onset Atopic Dermatitis: Presentations and Progress

2020 ◽  
Vol 24 (3) ◽  
pp. 267-272
Author(s):  
Airiss R. Chan ◽  
Vijay K. Sandhu ◽  
Aaron M. Drucker ◽  
Patrick Fleming ◽  
Charles W. Lynde
Keyword(s):  
Atopic Dermatitis ◽  
Immune Dysregulation ◽  
Upper Limbs ◽  
Adult Onset ◽  
Barrier Dysfunction ◽  
Childhood Onset ◽  
Exclusion Criteria ◽  
Body Regions ◽  
Chronic Skin ◽  
Chronic Skin Disease

Atopic dermatitis (AD) is a chronic skin disease characterized by barrier dysfunction and immune dysregulation that affects approximately 20% of children and 2-5% of adults worldwide. Traditionally, AD has been considered a disease of childhood with many cases resolving before adulthood. However, in recent years, the prevalence of adult AD is increasingly recognized to be substantial, but it is uncertain whether this increase is due to increased childhood-persistent or relapsed AD, or new adult-onset AD. This highlights a need for further investigation into the adult AD population and evaluation of phenotypes in the adult-onset cohort. In this literature review, we examine five studies focused on adult-onset AD phenotype, conducted between 2013 and 2017. The most commonly reported body regions affected in adult-onset AD were the hands, eyelids, neck, and flexural surfaces of the upper limbs. These vary from childhood-onset AD findings, which are less specific to body regions other than flexural areas. These findings have implications for diagnostic accuracy and treatment of AD, including considerations for therapeutic choices and inclusion and exclusion criteria in clinical trials.

Childhood-onset scleroderma: Is it different from adult-onset disease?

1996 ◽  
Vol 39 (6) ◽  
pp. 1041-1049 ◽  
Author(s):  
Rama Vancheeswaran ◽  
Carol M. Black ◽  
Joel David ◽  
Nathan Hasson ◽  
John Harper ◽  
...  
Keyword(s):  
Adult Onset ◽  
Childhood Onset

Human Papillomavirus in Various Lesions of the Head and Neck

1985 ◽  
Vol 93 (3) ◽  
pp. 342-346 ◽  
Author(s):  
Melvin Strauss ◽  
A. Bennett Jenson
Keyword(s):  
Human Papillomavirus ◽  
Oral Cavity ◽  
Head And Neck ◽  
Adult Onset ◽  
Childhood Onset ◽  
Oncogenic Potential ◽  
Suggestive Evidence ◽  
Malignant Lesions ◽  
Epithelial Lesions

The association of human papillomavirus with benign and malignant epithelial lesions of the head and neck has been studied by a peroxidase-antiperoxidase technique having immunospecificity against genus-specific structural antigens of the papillomaviruses. More than 360 specimen blocks from 144 patients were evaluated. There was evidence of human papillomavirus antigen in three out of eight patients with childhood-onset laryngeal papillomas (37.5%) and in four out of eight patients with adult-onset papillomas (50%). A patient with an unusual flat, wartlike lesion appearing as an oral cavity leukoplakia had detectable papillomavirus antigen in it. None of the 13 cases of inverting papilloma or any of the malignant lesions studied showed evidence for the presence of papillomavirus antigen. There is currently only suggestive evidence for the oncogenic potential of human papillomavirus in the head and neck.

scholarly journals Insulin micro-secretion in Type 1 diabetes and related microRNA profiles

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Andrzej S. Januszewski ◽  
Yoon Hi Cho ◽  
Mugdha V. Joglekar ◽  
Ryan J. Farr ◽  
Emma S. Scott ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Cross Sectional Study ◽  
Diabetes Duration ◽  
Adult Onset ◽  
Sectional Study ◽  
Childhood Onset ◽  
Cross Sectional ◽  
C Peptide ◽  
Adult Onset Diabetes

AbstractThe aim of this cross-sectional study was to compare plasma C-peptide presence and levels in people without diabetes (CON) and with Type 1 diabetes and relate C-peptide status to clinical factors. In a subset we evaluated 50 microRNAs (miRs) previously implicated in beta-cell death and associations with clinical status and C-peptide levels. Diabetes age of onset was stratified as adult (≥ 18 y.o) or childhood (< 18 y.o.), and diabetes duration was stratified as ≤ 10 years, 10–20 years and > 20 years. Plasma C-peptide was measured by ultrasensitive ELISA. Plasma miRs were quantified using TaqMan probe-primer mix on an OpenArray platform. C-peptide was detectable in 55.3% of (n = 349) people with diabetes, including 64.1% of adults and 34.0% of youth with diabetes, p < 0.0001 and in all (n = 253) participants without diabetes (CON). C-peptide levels, when detectable, were lower in the individuals with diabetes than in the CON group [median lower quartile (LQ)–upper quartile (UQ)] 5.0 (2.6–28.7) versus 650.9 (401.2–732.4) pmol/L respectively, p < 0.0001 and lower in childhood versus adult-onset diabetes [median (LQ–UQ) 4.2 (2.6–12.2) pmol/L vs. 8.0 (2.3–80.5) pmol/L, p = 0.02, respectively]. In the childhood-onset group more people with longer diabetes duration (> 20 years) had detectable C-peptide (60%) than in those with shorter diabetes duration (39%, p for trend < 0.05). Nine miRs significantly correlated with detectable C-peptide levels in people with diabetes and 16 miRs correlated with C-peptide levels in CON. Our cross-sectional study results are supportive of (a) greater beta-cell function loss in younger onset Type 1 diabetes; (b) persistent insulin secretion in adult-onset diabetes and possibly regenerative secretion in childhood-onset long diabetes duration; and (c) relationships of C-peptide levels with circulating miRs. Confirmatory clinical studies and related basic science studies are merited.

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