ORO-Dental Manifestations in West Syndrome

Background: West Syndrome is a rare epileptic encephalopathy involving infantile spasms, altered electroencephalographic pattern with hypsarrhythmia, and psychomotor development delay. It arises in paediatric patients, generally within the first year of life, in symptomatic or idiopathic form depending on the presence of hereditary features or not. Case report: In this report it is described the case of a West syndrome patient affected by multiple caries, gingival enlargement, dental eruption abnormalities, high-arched palate and MIH, treated at the dental clinic of University of Bari “Aldo Moro”. Discussion: West patients present with multiple oral abnormalities, including altered eruption timing, teeth agenesis, teeth shape and position abnormalities, plaque and calculus accumulation, malocclusions and bad oral habits (mouth breathing, nails biting). Conclusion:: West Syndrome patients’ oral hygiene is generally bad due to their motor difficulty and to their low compliance towards dentists, which entails general anaesthesia to perform dental treatment. West Syndrome pharmacological treatment is usually based on antiepileptic drugs and/or ACTH. These medications are well known for their ability to induce gingival enlargement, increasing the possibility of plaque accumulation and gingivitis development.

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

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01659-3 ◽

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.

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Dravet syndrome associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABAA receptors

Brain Communications ◽

10.1093/braincomms/fcab033 ◽

2021 ◽

Author(s):

Ciria C Hernandez ◽

XiaoJuan Tian ◽

Ningning Hu ◽

Wangzhen Shen ◽

Mackenzie A Catron ◽

...

Keyword(s):

Gabaa Receptor ◽

De Novo ◽

Epileptic Encephalopathy ◽

Dravet Syndrome ◽

First Year ◽

Genes Encoding ◽

Genetic Landscape ◽

Clonic Seizures ◽

Trafficking Defects ◽

First Year Of Life

Abstract Dravet syndrome is a rare, catastrophic epileptic encephalopathy that begins in the first year of life, usually with febrile or afebrile hemiclonic or generalized tonic-clonic seizures followed by status epilepticus. De novo variants in genes that mediate synaptic transmission such as SCN1A and PCDH19 are often associated with Dravet syndrome. Recently, GABAA receptor subunit genes (GABRs) encoding α1 (GABRA1), β3 (GABRB3) and γ2 (GABRG2), but not β2 (GABRB2) or β1 (GABRB1), subunits are frequently associated with Dravet syndrome or Dravet syndrome-like phenotype. We performed next generation sequencing on 870 patients with Dravet syndrome and identified nine variants in three different GABRs. Interestingly, the variants were all in genes encoding the most common GABAA receptor, the α1β2γ2 receptor. Mutations in GABRA1 (c.644T>C, p.L215P; c.640C>T, p.R214C; c.859G>A; V287I; c.641G>A, p.R214H) and GABRG2 (c.269C>G, p.T90R; c.1025C>T, p.P342L) presented as de novo cases, while in GABRB2 two variants were de novo (c.992T>C, p.F331S; c.542A>T, p.Y181F) and one was autosomal dominant and inherited from the maternal side (c.990_992del, p.330_331del). We characterized the effects of these GABR variants on GABAA receptor biogenesis and channel function. We found that defects in receptor gating were the common deficiency of GABRA1 and GABRB2 Dravet syndrome variants, while mainly trafficking defects were found with the GABRG2 (c.269C>G, p.T90R) variant. It seems that variants in α1 and β2 subunits are less tolerated than in γ2 subunits, since variant α1 and β2 subunits express well but were functionally deficient. This suggests that all of these GABR variants are all targeting GABR genes that encode the assembled α1β2γ2 receptor, and regardless of which of the three subunits are mutated, variants in genes coding for α1, β2 and γ2 receptor subunits make them candidate causative genes in the pathogenesis of Dravet syndrome.

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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

Acta Endocrinologica ◽

10.1530/eje.0.1490001 ◽

2003 ◽

pp. 1-6 ◽

Cited By ~ 42

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.

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Basics of physiological carrying babies

Polish Annals of Medicine ◽

10.29089/2020.20.00153 ◽

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.

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

Acta geneticae medicae et gemellologiae ◽

10.1017/s1120962300024665 ◽

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.

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