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 Association between severity of prenatally diagnosed hydronephrosis and receipt of surgical intervention postnatally among patients seen at a fetal-maternal center

BMC Urology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zoë G. Baker ◽  
Arthi Hannallah ◽  
Melissa Trabold ◽  
Danielle Estell ◽  
Cherry Deng ◽  
...  
Keyword(s):  
Surgical Intervention ◽  
Renal Scarring ◽  
Tertiary Care ◽  
Rank Test ◽  
Kaplan Meier ◽  
Hazard Ratios ◽  
Age At Surgery ◽  
History Of ◽  
Pediatric Urologist ◽  
Tract Infections

Abstract Background Hydronephrosis (HN) is the most common abnormality detected on prenatal ultrasound. This study sought to stratify outcomes of patients by severity of prenatal HN with postnatal outcomes. Methods This was a retrospective review of patients referred to a tertiary care fetal-maternal clinic with diagnosis of prenatal HN from 2004 to 2019. HN severity was categorized as mild, moderate, or severe. Data were analyzed to determine the association between HN severity and surgical intervention. Decision for surgery was based on factors including history of multiple urinary tract infections, evidence of renal scarring, and/or reduced renal function. Surgery-free survival time was represented by the Kaplan–Meier method, and hazard ratios were calculated using the log-rank test. Results 131 kidneys among 101 infants were prenatally diagnosed with hydronephrosis; 35.9% had mild HN, 29.0% had moderate HN, and 35.1% had severe HN. 8.5% of patients with mild HN, 26.3% of patients with moderate HN, and 65.2% of patients with severe HN required surgery. Patients with severe HN were 12.2 (95% CI 6.1–24.4; p < 0.001) times more likely to undergo surgery for HN than patients with mild HN and 2.9 (95% CI 1.5–5.3; p = 0.003) times more likely to undergo surgery than patients with moderate HN. Patients with moderate HN were 4.3 times more likely to require surgery than patients with mild HN (95% CI 1.5–12.9; p = 0.01). Median age at surgery was 11.8 months among patients with mild HN (IQR 11.7–14.1 months), 6.6 months among patients with moderate HN (IQR 4.2–16.4 months), and 5.4 months among patients with severe HN (3.7–12.4 months). Conclusion Among this cohort of referrals from a fetal-maternal clinic, severity of HN correlated with increased likelihood of surgical intervention. Continued assessment of patients with prenatal HN should be evaluated to best determine the role of the pediatric urologist in cases of prenatal HN.

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.

scholarly journals In congenital hypothyroidism bone maturation at birth may be a predictive factor of psychomotor development during the first Year of life irrespective of other variables related to treatment

2003 ◽  
pp. 1-6 ◽  
Author(s):  
M Wasniewska ◽  
F De Luca ◽  
A Cassio ◽  
N Oggiaro ◽  
P Gianino ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Psychomotor Development ◽  
First Year ◽  
X Rays ◽  
Bone Maturation ◽  
Gestation Age ◽  
Group A ◽  
One Year ◽  
First Year Of Life ◽  
Tsh Levels

OBJECTIVE: To evaluate in a cohort of infants with congenital hypothyroidism (CH): (a) the frequency of bone maturation (BM) retardation at birth and (b) whether BM delay at birth may be considered as a tool to make a prognosis of psychomotor status at the age of 1 Year, irrespective of other variables related to treatment. DESIGN: BM at birth, CH severity and developmental quotient (DQ) at the age of 1 Year were retrospectively evaluated in 192 CH infants selected by the following inclusion criteria: (a) gestation age ranging between 38 and 42 weeks; (b) onset of therapy within the first Month of life; (c) initial thyroxine (l-T(4)) dosage ranging from 10 to 12 microg/kg/day; (d) normalization of serum thyrotropin (TSH) levels before the age of 3 Months; (e) Monthly adjustments of l-T(4) dose during the first Year of life with serum TSH levels ranging from 0.5 to 4 mIU/l; (f) no major diseases and/or physical handicaps associated with CH; (g) availability of both thyroid scanning and knee X-rays at the time of treatment initiation; (h) availability of DQ assessment at an average age of 12 Months. METHODS: BM was considered normal if the distal femur bony nucleus diameter exceeded 3 mm (group A) or retarded if either this nucleus was absent (subgroup B1) or its diameter was <3 mm (subgroup B2). DQ was evaluated with the Brunet-Lezine test. RESULTS: In 44.3% of cases BM was either delayed (23.5%) or severely delayed (20.8%). The risk of BM retardation was higher in the patients with athyreosis than in the remaining patients (41/57 vs 44/135, chi(2)=25.13, P<0.005). BM-retarded infants showed a more severe biochemical picture of CH at birth and a lower DQ at the age of one Year compared with the group A patients. If compared with infants of subgroup B2 those of subgroup B1 exhibited significantly lower T(4) levels at birth and a more frequent association with athyreosis (70.0 vs 30.0%; chi(2)=7.49, P<0.01), whereas DQ was superimposable in both subgroups. CONCLUSIONS: (a) BM at birth is delayed in almost half of CH patients and (b) CH severity per se can affect DQ at the age of 1 Year irrespective of other variables related to therapy.

scholarly journals Basics of physiological carrying babies

2021 ◽  
Author(s):  
Wojciech Kiebzak
Keyword(s):  
Web Of Science ◽  
Developmental Coordination Disorder ◽  
Clinical Work ◽  
Psychomotor Development ◽  
First Year ◽  
Sitting Position ◽  
Optimal Conditions ◽  
Full Support ◽  
First Year Of Life ◽  
Coordination Disorder

Introduction: In the first year of life, the spine is very susceptible to various types of overload. During this period, it is extremely important to ensure optimal conditions for the physiological formation of curvature of the spine. Aim: The aim of the work is to present optimal ways of carrying infants, recommended by the authors. Material and methods: Using the keywords: ‘carrying children,’ ‘stacking babies,’ ‘moving babies,’ ‘carrying an infant,’ ‘stacking infants,’ ‘moving infants‘ the following databases were searched: ScienceDirect, Web of Science, PubMed, Scopus and ClinicalKey. Works published after 1990 were searched. The presented text describes the authors’ own experience gained throughout over 30 years of clinical work. Results and discussion: In the first year of life, manner of carrying a child should be adapted to the stage of its psychomotor development. During the first 4 months of life, the baby’s spine needs full support. Between 4 and 8 months of age, it is acceptable to carry the child vertically with relief from the spine. In the period when the child acquires ability to independently assume a sitting position and is able to control positioning of the torso in space, his body weight may rest on the tubers ischiale. Conclusions: (1) Proper way of carrying babies is important in the prevention of developmental coordination disorder in infants in the first year of life. (2) Periodical check-up of carrying position proper for a given stage of a child’s development is recommended.

scholarly journals RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients

2021 ◽  
Author(s):  
R Lopez-Rodriguez ◽  
E Lantero ◽  
F Blanco-Kelly ◽  
A Avila-Fernandez ◽  
I Martin Merida ◽  
...  
Keyword(s):  
Age At Onset ◽  
Disease Onset ◽  
Retinal Dystrophy ◽  
Rank Test ◽  
Ophthalmological Examination ◽  
Symptomatic Disease ◽  
Inherited Retinal Dystrophies ◽  
Kaplan Meier ◽  
Almost All ◽  
First Year Of Life

ABSTRACTBackgroundBiallelic pathogenic RPE65 variants are related to a spectrum of clinically overlapping inherited retinal dystrophies (IRD). Most affected individuals show a severe progression, with 50% of patients legally blind by 20 years of age. A better knowledge of the mutational spectrum and the phenotype-genotype correlation in RPE65-related IRD is needed.MethodsForty-five affected subjects from 27 unrelated families with a clinical diagnosis of RPE65-related IRD were included. Clinical evaluation consisted on self-reported ophthalmological history and objective ophthalmological examination. Patients’ genotype was classified accordingly to variant class (truncating or missense) or to variant location at different protein domains. Main phenotypic outcome was age at onset (AAO) of the symptomatic disease and a Kaplan–Meier analysis of disease symptom event-free survival was performed.ResultsTwenty-nine different RPE65 variants were identified in our cohort, 7 of them novel. Most frequent variants were p.(Ile98Hisfs*26), p.(Pro111Ser) and p.(Gly187Glu) accounting for the 24% of the detected alleles. Patients carrying two missense alleles showed a later disease onset than those with 1 or 2 truncating variants (Log Rank test p<0.05). While the 60% of patients carrying a missense/missense genotype presented symptoms before or at the first year of life, almost all patients with at least 1 truncating allele (91%) had an AAO ≤1 year (p<0.05).ConclusionOur findings suggest an association between the type of the RPE65 carried variant and the AAO. Thus, our results provide useful data on RPE65-associated IRD phenotypes which may help to improve clinical and therapeutic management of these patients.

Psychomotor Development of the Danzig Quintuplets in Their First Year of Life. A Psychological Evaluation

1972 ◽  
Vol 22 (S1) ◽  
pp. 186-188
Author(s):  
M. Bogdanowicz
Keyword(s):  
Physical Appearance ◽  
Psychological Evaluation ◽  
Body Posture ◽  
Psychomotor Development ◽  
First Year ◽  
Intelligence Scale ◽  
Rate Of Development ◽  
Personality Features ◽  
First Year Of Life

A psychological follow-up, based on the Brunet-Lézine Scale, showed a constant progress in the development of the quintuplets, the pace being quite proper from the 5th month on.The children differed from each other: the best pace of psychomotor development was observed in Adam and Ewa, the worst in Piotr.In all children, control of body posture showed the highest rate of development, exceeding the presumed norms. Some delay was observed in speech. The results of the examinations made by the Psyche-Cattell Intelligence Scale agree with those obtained by the Brunet-Lézine Scale.Besides the differences in physical appearance, the children showed differences in personality features.

scholarly journals Cryotherapy for Lichen Striatus in an Adult – a Case Report

2015 ◽  
Vol 7 (4) ◽  
pp. 163-171
Author(s):  
Slobodan Stojanović ◽  
Marina Jovanović ◽  
Nada Vučković
Keyword(s):  
Inflammatory Infiltrate ◽  
Unknown Origin ◽  
Skin Condition ◽  
First Year ◽  
Linear Distribution ◽  
Lichen Striatus ◽  
Full Resolution ◽  
Lines Of Blaschko ◽  
History Of ◽  
First Year Of Life

Abstract Lichen striatus (linear lichenoid dermatosis) is an uncommon, self-limited, inflammatory, linear skin condition of unknown origin. The causes of linear distribution are unknown, though the pattern of lichen striatus (LS) mostly follows the lines of Blaschko (BL). The condition most commonly occurs in children between 5 and 15 years of age, usually after the first year of life. We report a 27-year-old, otherwise healthy flight attendant with LS whose diagnosis was based on: the history of sudden appearance and rapid linear spread of lesions; clinical presentation of small pink, coalescing scaly papules without umbilication or Wickham’s striae, linear distribution following one BL down a lower limb to the ankle, with a band broadening into plaque on the left buttock; histology showed some hyperkeratosis, lichenoid dermatitis similar to lichen planus, but with the presence of inflammatory infiltrate in the papillary dermis and also deeper in the perifollicular region. The inflammatory infiltrate consisted mainly of limphocytes, with some melanophages and histiocytes. There is no standard treatment for LS, and it is given for cosmetic or psychological reasons only, as we have done in our patient due to slight pruritus and occupational reasons. With regard to her occupational demands, in order to achieve satisfying results, she was successfully treated with cryotherapy, which she tolerated well, without any side effects. Cryotherapy was performed twice, with a two-week interval. Full resolution was achieved twelve weeks after cryotherapy. In conclusion, we present an adult female who developed lichen striatus suddenly three months after delivery and was successfully treated with cryotherapy.

Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

2020 ◽  
Vol 51 (03) ◽  
pp. 229-232
Author(s):  
J. Micallef ◽  
S. Stockler-Ipsiroglu ◽  
C.D. van Karnebeek ◽  
R. Salvarinova-Zivkovic ◽  
G. Horvath
Keyword(s):  
Amino Acid ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Global Developmental Delay ◽  
Acid Decarboxylase ◽  
First Year ◽  
Amino Acid Decarboxylase ◽  
History Of ◽  
First Year Of Life ◽  
Decarboxylase Deficiency

AbstractAromatic L-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive inborn error of metabolism in which several neurotransmitters including serotonin, dopamine, norepinephrine and epinephrine are deficient. Symptoms typically appear in the first year of life and include oculogyric crises and dystonia, hypotonia, and global developmental delay. Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. Rhabdomyolysis can become life-threating and therefore its recognition and prompt management is of significant importance. Here we present two cases of patients with AADC deficiency and a history of dystonic crisis causing rhabdomyolysis. We hypothesize that in addition to the hypodopaminergic, a hypercholinergic state is contributing to the pathophysiology of dystonia in AADC deficiency, as well as to the associated rhabdomyolysis. We were able to prevent rhabdomyolysis in both patients with using Dantrolene and we suggest using a trial of this medication in cases of sustained dystonic crisis in AADC deficiency patients.

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