Erratum: Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Kilinc, Mehmet O.; Ninis, Vasiliki; Uğur, Sibel Aylin; Tüysüz, Beyhan; Seven, Mehmet; Balcí, Sevim; Goodship, Judith A.; Tolun, Aslıhan

doi:10.1038/ejhg.2014.258

Cited by 8 publications

(2 citation statements)

References 10 publications

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“…This finding may be related to the learning difficulty resulting from the syndrome. Mo et al (2015) report that individuals with this syndrome may present mental retardation due to the small brain size. Another factor that may have contributed to this lack of an improvement was the number of sessions, which may have been insufficient to achieve improvements in activities of daily living.…”

Section: Discussionmentioning

confidence: 99%

“…Another factor that may have contributed to this lack of an improvement was the number of sessions, which may have been insufficient to achieve improvements in activities of daily living. Therefore, further longitudinal studies should be conducted with a larger number of sessions and an increase in the frequency of the intervention sessions (Mo et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

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Seckel Syndrome: case report of functional motor recovery using proprioceptive neuromuscular facilitation/Kabat Method

Souza

Júnior

Garção

et al. 2022

RSD

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Introduction: Seckel syndrome (SCKL) is a heterogeneous autosomal recessive disorder, the major characteristic of which is microcephalic osteodysplastic dwarfism, which is defined as severe intrauterine growth retardation, severe short stature, severe microcephaly, bird-like profile, retroverted chin and forehead, prominent nose, mental retardation and other congenital anomalies. Objective: Evaluate the therapeutic effect of proprioceptive neuromuscular facilitation/Kabat method (PNF/KM) for functional recovery in SCKL. Methods: A pre-treatment evaluation was performed, followed by an intervention involving PNF/KM. Sessions were held twice a week for ten weeks (total: 20 sessions), followed by a post-treatment evaluation. The evaluator and the therapist were blinded. The assessment instruments were Lawton & Brody's Activities of Daily Living (ADL) Scale, Disabilities of Arm, Shoulder and Hand (DASH), Short Physical Performance Battery, Timed Up and Go test and upper limb muscle strength using a digital dynamometer. Results: No significant changes were found regarding ADL Scale or DASH. However, functional gains were achieved in activities that require biomechanical and proprioceptive actions of the shoulder, arm and wrist. Regarding the Short Physical Performance Battery, improvement was found in variables that require stabilization, strength, balance and agility. An improvement was found in the execution speed of the Timed Up and Go test. An improvement in muscle strength was following the intervention. Conclusion: This study showed that the PNF/KM method was not able to improve the performance on activities of daily living, but improvements were found with regards to balance, stabilization, strength and agility of the upper limbs and lower limbs.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Seckel Syndrome: case report of functional motor recovery using proprioceptive neuromuscular facilitation/Kabat Method

Souza

Júnior

Garção

et al. 2022

RSD

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Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review

et al. 2021

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Purpose To systematically review reported cases of Seckel syndrome (SS) and point out cases associated with central nervous system (CNS) vasculopathy and provide a summary of their clinical presentation, management, and outcomes including our illustrative case. Methods We conducted a search on the MEDLINE, PubMed, Google Scholar, and Cochrane databases using the keywords “Seckel + syndrome.” We identified 127 related articles reporting 252 cases of SS apart from our case. Moreover, we searched for SS cases with CNS vasculopathies from the same databases. We identified 7 related articles reporting 7 cases of CNS vasculopathies in SS patients. Results The overall rate of CNS vasculopathy in SS patients is 3.16% (n = 8/253), where moyamoya disease (MMD) accounted for 1.97%. The mean age is 13.5 years (6–19 years), with equal gender distribution (M:F, 1:1). The most common presenting symptoms were headache and seizure followed by weakness or coma. Aneurysms were mostly located in the basilar artery, middle cerebral artery, and internal carotid artery, respectively. Regardless of the management approach, 50% of the cases sustained mild-moderate neurological deficit, 37.5% have died, and 12.5% sustained no deficit. Conclusion A high index of suspicion should be maintained in (SS) patients, and MMD should be part of the differential diagnosis. Prevalence of CNS vasculopathy in SS is 3.16% with a much higher prevalence of MMD compared to the general population. Screening for cerebral vasculopathy in SS is justifiable especially in centers that have good resources. Further data are still needed to identify the most appropriate management plan in these cases.

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Primordial dwarfism: overview of clinical and genetic aspects

et al. 2015

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Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver-Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier-Gorlin Syndrome. This genetic disorder group is characterized by intra-uterine growth retardation and post-natal growth abnormalities which occur as a result of disorganized molecular and genomic changes in embryonic stage and, thus, it represents a unique area to study growth and developmental abnormalities. Lot of research has been carried out on different aspects; however, a consolidated review that discusses an overall spectrum of this disorder is not accessible. Recent research in this area points toward important molecular and cellular mechanisms in human body that regulate the complexity of growth process. Studies have emerged that have clearly associated with a number of abnormal chromosomal, genetic and epigenetic alterations that can predispose an embryo to develop PD-associated developmental defects. Finding and associating such fundamental changes to its subtypes will help in re-examination of alleged functions at both cellular and developmental levels and thus reveal the intrinsic mechanism that leads to a balanced growth. Although such findings have unraveled a subtle understanding of growth process, we further require active research in terms of identification of reliable biomarkers for different subtypes as an immediate requirement for clinical utilization. It is hoped that further study will advance the understanding of basic mechanisms regulating growth relevant to human health. Therefore, this review has been written with an aim to present an overview of chromosomal, molecular and epigenetic modifications reported to be associated with different subtypes of this heterogenous disorder. Further, latest findings with respect to clinical and molecular genetics research have been summarized to aid the medical fraternity in their clinical utility, for diagnosing disorders where there are overlapping physical attributes and simultaneously inform about the latest developments in PD biology.

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Erratum: Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Cited by 8 publications

References 10 publications

Seckel Syndrome: case report of functional motor recovery using proprioceptive neuromuscular facilitation/Kabat Method

Seckel Syndrome: case report of functional motor recovery using proprioceptive neuromuscular facilitation/Kabat Method

Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review

Primordial dwarfism: overview of clinical and genetic aspects

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