scholarly journals Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Sarah Isabel Krieg ◽  
Ingeborg Krägeloh-Mann ◽  
Samuel Groeschel ◽  
Stefanie Beck-Wödl ◽  
Ralf A. Husain ◽  
...  
Keyword(s):  
White Matter ◽  
Natural History ◽  
Neurodegenerative Disorder ◽  
Tube Feeding ◽  
Krabbe Disease ◽  
First Year ◽  
Rapid Progression ◽  
Disease Course ◽  
History Of ◽  
First Year Of Life

Abstract Background Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by a defect in the GALC gene leading to a deficiency of the enzyme ß-galactocerebrosidase. The aim of this work was to describe the natural disease course covering the whole spectrum of the disease. Methods Natural history data were collected with a standardized questionnaire, supplemented by medical record data. We defined different forms of the disease according to Abdelhalim et al. (2014). Developmental and disease trajectories were described based on the acquisition and loss of milestones as well as the time of first clearly identifiable symptoms and needs such as spasticity, seizures and tube feeding. MRI was assessed using the scoring system by Loes et al. (1999) and in addition a pattern recognition approach, based on Abdelhalim et al. (2014). Results Thirty-eight patients were identified, from 27 of these patients 40 MRIs were available; 30 (79%) had an infantile onset, showing first symptoms in their first year of life, almost all (27 out of 30) starting in the first six months. A later onset after the first year of life was observed in 8 patients (21%, range 18 months to 60 years). Irritability, abnormalities in movement pattern as well as general developmental regression were the first symptoms in the infantile group; disease course was severe with rapid progression, e.g. loss of visual fixation, need for tube feeding and then an early death. Gait disorders were the first symptoms in all patients of the later onset groups; progression was variable. The different forms of the disease were characterized by different MRI patterns (infantile: diffuse white matter involvement and cerebellar structures specifically affected, later onset: parieto-occipital white matter and splenium affected, adult: motor tracts specifically affected). Conclusion This is the first description of the natural history of Krabbe disease in a larger European cohort using developmental, clinical and MRI data. We would like to highlight the very different clinical and MRI characteristics of the later onset forms. These data are important for counselling affected patients and families and may serve as a basis for future treatment trials.

Natural history of white matter development in infantile Krabbe disease

2020 ◽  
Vol 129 (2) ◽  
pp. S161
Author(s):  
Ashley Marie Whited ◽  
Ju Wu ◽  
Michele Poe ◽  
Maria Escolar
Keyword(s):  
White Matter ◽  
Natural History ◽  
Krabbe Disease ◽  
History Of ◽  
White Matter Development

scholarly journals Retrospective Analysis of the Natural History of Atopic Dermatitis Occurring in the First Year of Life in Korean Children

2012 ◽  
Vol 27 (7) ◽  
pp. 723 ◽  
Author(s):  
Younghee Chung ◽  
Jung Hyun Kwon ◽  
Jihyun Kim ◽  
Youngshin Han ◽  
Sang-Il Lee ◽  
...  
Keyword(s):  
Atopic Dermatitis ◽  
Natural History ◽  
Retrospective Analysis ◽  
First Year ◽  
Korean Children ◽  
History Of ◽  
First Year Of Life

scholarly journals The Natural History of Weight Percentile Changes in the First Year of Life

2014 ◽  
Vol 168 (7) ◽  
pp. 681 ◽  
Author(s):  
William E. Bennett ◽  
Kristin S. Hendrix ◽  
Rachel T. Thompson ◽  
Aaron E. Carroll ◽  
Stephen M. Downs
Keyword(s):  
Natural History ◽  
First Year ◽  
History Of ◽  
First Year Of Life ◽  
Weight Percentile

Natural history of hereditary spherocytosis during the first year of life

Blood ◽  
2000 ◽  
Vol 95 (2) ◽  
pp. 393-397 ◽  
Author(s):  
F. Delhommeau ◽  
T. Cynober ◽  
P. O. Schischmanoff ◽  
P. Rohrlich ◽  
J. Delaunay ◽  
...  
Keyword(s):  
Natural History ◽  
Hereditary Spherocytosis ◽  
First Year ◽  
Careful Monitoring ◽  
Red Cell Membrane ◽  
History Of ◽  
Filtering Function ◽  
First Year Of Life ◽  
Erythropoietic Response

Although hereditary spherocytosis (HS) is a common disorder of the red cell membrane, its clinical and biologic expression at birth and in early infancy has received little attention. In order to obtain insights into the natural history of HS during infancy, we studied 46 neonates, 39 from families in which 1 of the parents had previously been given a diagnosis of HS and 7 presenting with nonimmune hemolytic anemia and no family history of HS. Of these 46 neonates, 23 were subsequently confirmed to have HS and 23 were found to be healthy. The hematologic and biologic analyses carried out in this cohort of 46 newborns enabled us to develop guidelines for early diagnosis of HS. A careful clinical follow-up of 34 HS patients during the first year of life allowed us to define several important clinical features of HS during this period. Hemoglobin values are usually normal at birth but decrease sharply during the subsequent 20 days, which leads, in many cases, to a transient and severe anemia. The anemia is severe enough to warrant blood transfusions in a large number of infants with HS (26 of 34 in our series). The aggravation of anemia appears to be related to the inability of these infants to mount an appropriate erythropoietic response to anemia and to the development of splenic filtering function. These findings indicate that careful monitoring of infants with HS during the first 6 months of life is important for appropriate clinical management.

scholarly journals The natural history of Canavan disease: 23 new cases and comparison with patients from literature

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Annette Bley ◽  
Jonas Denecke ◽  
Alfried Kohlschütter ◽  
Gerhard Schön ◽  
Sandra Hischke ◽  
...  
Keyword(s):  
Severity Score ◽  
Canavan Disease ◽  
Psychomotor Development ◽  
Rank Test ◽  
First Year ◽  
Study Cohort ◽  
Pooled Data ◽  
Kaplan Meier ◽  
History Of ◽  
First Year Of Life

Abstract Background Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and prospectively in 23 CD patients. Results were compared with data of CD patients reported in three prior large series. Kaplan Meier survival analysis including log rank test was performed for pooled data of 82 CD patients (study cohort and literature patients). Results Onset of symptoms was between 0 and 6 months. Psychomotor development of patients was limited to abilities that are usually gained within the first year of life. Macrocephaly became apparent between 4 and 18 months of age. Seizure frequency was highest towards the end of the first decade. Ethnic background was more diverse than in studies previously reported. A CD severity score with assessment of 11 symptoms and abilities was developed. Conclusions Early hallmarks of CD are severe psychomotor disability and macrocephaly that develop within the first 18 months of life. While rare in the first year of life, seizures increase in frequency over time in most patients. CD occurs more frequently outside Ashkenazi Jewish communities than previously reported. Concordance of phenotypes between siblings but not patients with identical ASPA mutations suggest the influence of yet unknown modifiers. A CD severity score may allow for assessment of CD disease severity both retrospectively and prospectively.

scholarly journals Young children with Noonan syndrome: evaluation of feeding problems

2020 ◽  
Vol 179 (11) ◽  
pp. 1683-1688
Author(s):  
Jos M. T. Draaisma ◽  
Joris Drossaers ◽  
Lenie van den Engel-Hoek ◽  
Erika Leenders ◽  
Joyce Geelen
Keyword(s):  
Young Children ◽  
Noonan Syndrome ◽  
Early Onset ◽  
Late Onset ◽  
Tube Feeding ◽  
Genetic Mutation ◽  
First Year ◽  
Feeding Problems ◽  
Genetic Syndrome ◽  
First Year Of Life

Abstract Noonan syndrome (NS) is a common genetic syndrome with a high variety in phenotype. Even though genetic testing is possible, NS is still a clinical diagnosis. Feeding problems are often present in infancy. We investigated the feeding status of 108 patients with clinically and genetically confirmed NS. Only patients with a documented feeding status before the age of 6 were included. A distinction was made between patients with early onset feeding problems (< 1 year) and children with late onset feeding problems (> 1 year). Seventy-one of 108 patients had feeding problems, of which 40 patients required tube feeding. Children with a genetic mutation other than PTPN11 and SOS1 had significantly more feeding problems in the first year. Fifty-two of all 108 patients experienced early onset feeding problems, of which 33 required tube feeding. A strong decrease in prevalence of feeding problems was found after the first year of life. Fifteen children developed feeding problems later in life, of which 7 required tube feeding. Conclusion: Feeding problems occur frequently in children with NS, especially in children with NS based on genetic mutations other than PTPN11 and SOS1. Feeding problems develop most often in infancy and decrease with age. What is Known:• Young children with Noonan syndrome may have transient feeding problems.• Most of them will need tube feeding. What is New:• This is the first study of feeding problems in patients with clinically and genetically proven Noonan syndrome.• Feeding problems most often develop in infancy and resolve between the age of 1 and 2.

Epidemiology of Physician-Diagnosed Allergic Rhinitis in Childhood

PEDIATRICS ◽  
1994 ◽  
Vol 94 (6) ◽  
pp. 895-901
Author(s):  
Anne L. Wright ◽  
Catharine J. Holberg ◽  
Marilyn Halonen ◽  
Fernando D. Martinez ◽  
Wayne Morgan ◽  
...  
Keyword(s):  
Risk Factors ◽  
Allergic Rhinitis ◽  
Immunoglobulin E ◽  
Age At Onset ◽  
First Year ◽  
Healthy Children ◽  
Early Introduction ◽  
Maternal Cigarette Smoking ◽  
History Of ◽  
First Year Of Life

Objective. To investigate the natural history of and risk factors for allergic rhinitis in the first 6 years of life. Methods. Parents of 747 healthy children followed from birth completed a questionnaire when the child was 6 years old. Data were obtained regarding physician-diagnosed allergic rhinitis (PDAR), associated symptoms, and age at onset. Risk-factor data were taken from earlier questionnaires, and data regarding immunoglobulin E (IgE) and skin-test reactivity were obtained at age 6. Results. By the age of 6, 42% of children had PDAR. Children whose rhinitis began in the first year of life had more respiratory symptoms at age 6 and were more likely to have a diagnosis of asthma. Early introduction of foods or formula, heavy maternal cigarette smoking in the first year of life, and higher IgE, as well as parental allergic disorders, were associated with early development of rhinitis. Risk factors for PDAR that remained significant in a multivanate model included maternal history of physician-diagnosed allergy (odds ratio: 2.2, 95% confidence interval: 1.35-3.54), asthma in the child (4.06, 2.06-7.99), and IgE greater than 100 IU/mL at age 6 (1.93, 1.18-3.17). The odds for atopic as opposed to nonatopic PDAR were significantly higher only among those with high IgE and those who had dogs. Conclusion. Allergic rhinitis developing in the first years of life is an early manifestation of an atopic predisposition, which may be triggered by early environmental exposures.

scholarly journals Auditory temporal abilities in children with history of recurrent otitis media in the first years of life and persistent in preschool and school ages

CoDAS ◽  
2014 ◽  
Vol 26 (6) ◽  
pp. 494-502 ◽  
Author(s):  
Priscila Cruvinel Villa ◽  
Sthella Zanchetta
Keyword(s):  
Otitis Media ◽  
Otitis Media With Effusion ◽  
Temporal Frequency ◽  
Control Group ◽  
First Year ◽  
Normal Range ◽  
Frequency Pattern ◽  
History Of ◽  
First Year Of Life ◽  
Recurrent Otitis Media

PURPOSE: To study the temporal auditory ordering and resolution abilities in children with and without a history of early OME and ROME, as well as to study the responses according to age. METHODS: A total of 59 children were evaluated, and all of them presented pure tone thresholds within the normal range at the time of the conduction of the hearing tests. The children were divided into two groups according to the occurrence of episodes of recurrent otitis media. Then, each group was divided into two subgroups according to age: 7- and 8-year olds, and 9- and 10-year olds. All children were assessed with standard tests of temporal frequency (ordination) and gaps-in-noise (resolution). RESULTS: For the temporal abilities studied, children with a history of otitis media presented significantly lower results compared to the control group. In the frequency pattern test, the correct answers increased with age in both groups. In the identification of silence intervals, the control group showed no change in threshold regarding to age, but this change was present in the group with a history of otitis media. CONCLUSION: Episodes of otitis media with effusion in the first year of life, recurrent and persistent in preschool and school ages, negatively influence the temporal ordering and resolution abilities.

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