Stridor as one of the symptoms of 5p deletion syndrome in a five-month-old child

2017 ◽  
Vol 6 (3) ◽  
pp. 37-42
Author(s):  
Katarzyna Malicka ◽  
Ewa Grochowska-Bohatyrewicz ◽  
Aleksandra Pietrzyk ◽  
Stecewicz Iwona ◽  
Ewa Jaworowska ◽  
...  
Keyword(s):  
Behavioral Problems ◽  
Genetic Disorder ◽  
Later Life ◽  
Deletion Syndrome ◽  
Type I ◽  
Speech Impairment ◽  
Motor Delay ◽  
Feeding Difficulties ◽  
Dysmorphic Features ◽  
5P Deletion

The 5p deletion syndrome (5p-, Cri-du-chat syndrome, CdCS) is a genetic disorder which results from a partial deletion of the short arm of chromosome 5. It was first described by Lejeune et al. in 1963. The incidence ranges from 1:15 000 to 1:50 000 live births. The 5p- is usually diagnosed in the first days of life because of the characteristic monotonous high pitched cat-like cry and relatively constant dysmorphic features. Other symptoms often present in the neonatal period include low birth weight, muscle hypotonia, asphyxia and feeding difficulties due to impaired suction and swallowing, which may all lead to failure to thrive. Organ malformations, with various larynx abnormalities, although not very frequent, can also be present. Symptoms that are prevalent in later life include severe motor delay and intellectual disability with significant speech impairment, as well as behavioral problems. The case report presents a female infant in her 5th month of life in whom, despite the typical symptoms of 5p-, stridor and episodes of choking were the main problems. Laryngotracheal endoscopy revealed the type I laryngeal cleft. Genetic analysis confirmed the diagnose of 5p- syndrome. The presented case shows that it is critically important to perform a further investigation and refer a child with laryngological problems coexisting with dysmorphic features to a clinical geneticist.

Stridor as one of the symptoms of 5p deletion syndrome in a five-month-old child

2017 ◽  
Vol 6 (3) ◽  
pp. 16-21
Author(s):  
Przemysław Hubert Krawczyk ◽  
Dariusz Kaczmarczyk
Keyword(s):  
Behavioral Problems ◽  
Genetic Disorder ◽  
Later Life ◽  
Deletion Syndrome ◽  
Type I ◽  
Speech Impairment ◽  
Motor Delay ◽  
Feeding Difficulties ◽  
Dysmorphic Features ◽  
5P Deletion

The 5p deletion syndrome (5p-, Cri-du-chat syndrome, CdCS) is a genetic disorder which results from a partial deletion of the short arm of chromosome 5. It was first described by Lejeune et al. in 1963. The incidence ranges from 1:15 000 to 1:50 000 live births. The 5p- is usually diagnosed in the first days of life because of the characteristic monotonous high pitched cat-like cry and relatively constant dysmorphic features. Other symptoms often present in the neonatal period include low birth weight, muscle hypotonia, asphyxia and feeding difficulties due to impaired suction and swallowing, which may all lead to failure to thrive. Organ malformations, with various larynx abnormalities, although not very frequent, can also be present. Symptoms that are prevalent in later life include severe motor delay and intellectual disability with significant speech impairment, as well as behavioral problems. The case report presents a female infant in her 5th month of life in whom, despite the typical symptoms of 5p-, stridor and episodes of choking were the main problems. Laryngotracheal endoscopy revealed the type I laryngeal cleft. Genetic analysis confirmed the diagnose of 5p- syndrome. The presented case shows that it is critically important to perform a further investigation and refer a child with laryngological problems coexisting with dysmorphic features to a clinical geneticist.

scholarly journals Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3)

2016 ◽  
Vol 150 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Vy Dang ◽  
Abhilasha Surampalli ◽  
Ann M. Manzardo ◽  
Stephanie Youn ◽  
Merlin G. Butler ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosome Region ◽  
Genetic Disorder ◽  
Type I ◽  
Prader Willi Syndrome ◽  
Stk11 Gene ◽  
Feeding Difficulties ◽  
First Case ◽  
Increased Risk ◽  
Hands And Feet

Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. High-resolution SNP microarray analysis identified an atypical PWS type I deletion in chromosome 15 involving the proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11q13 region, and GABRA5, GABRG3, and OCA2 genes were intact. No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene.

scholarly journals Effects of Transcranial Direct Current Stimulation (tDCS) on Go/NoGo Performance Using Food and Non-Food Stimuli in Patients with Prader–Willi Syndrome

2021 ◽  
Vol 11 (2) ◽  
pp. 250
Author(s):  
Albert B. Poje ◽  
Ann Manzardo ◽  
Kathleen M. Gustafson ◽  
Ke Liao ◽  
Laura E. Martin ◽  
...  
Keyword(s):  
Direct Current ◽  
Behavioral Problems ◽  
Transcranial Direct Current Stimulation ◽  
Genetic Disorder ◽  
Event Related Potentials ◽  
Prader Willi Syndrome ◽  
Feeding Difficulties ◽  
Direct Current Stimulation ◽  
Positive Effects ◽  
Related Potentials

Prader–Willi syndrome (PWS) is a neurodevelopmental genetic disorder characterized by multiple system involvement with hypotonia, poor suck with feeding difficulties, growth and other hormone deficiencies, intellectual disability, and behavioral problems with childhood onset of hyperphagia resulting in obesity, if not externally controlled. Transcranial direct current stimulation (tDCS) has been increasingly shown to modulate cognitive and behavioral processes in children and adults, including food-intake behaviors in patients with PWS. This study further reports the positive effects of brief tDCS sessions on Go/NoGo task performance involving food and non-food stimuli images, alterations in N2 brain amplitude, and genetic subgroup differences (maternal disomy 15, UPD; 15q11-q13 deletion, DEL) before and after tDCS as assessed by event-related potentials (ERPs) in 10 adults with PWS. The results indicate a group effect on baseline NoGo N2 amplitude in PWS patients with DEL vs UPD (p =0.046) and a decrease in NoGo N2 amplitude following tDCS (p = 0.031). Our tDCS approach also demonstrated a trend towards decreased response time. Collectively, these results replicate and expand prior work highlighting neurophysiological differences in patients with PWS according to genetic subtype and demonstrate the feasibility in examining neuromodulatory effects of tDCS on information processing in this patient population to stimulate additional research and treatment.

Chromosome 16p13.11 Microdeletion Syndrome in a Newborn: A Case Study

2018 ◽  
Vol 37 (5) ◽  
pp. 303-309
Author(s):  
Amanda Elizabeth Smith ◽  
Amy Jnah ◽  
Desi Newberry
Keyword(s):  
Life Span ◽  
Behavioral Problems ◽  
Early Identification ◽  
De Novo ◽  
Neonatal Period ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Microdeletion Syndrome ◽  
Motor Delay ◽  
Feeding Difficulties

Chromosome 16p13.11 microdeletion syndrome is a rare copy number variant that carries increased risks for complications in the neonatal period and throughout the life span. Clinical manifestations and associated defects known to present in the neonatal period include motor delay, facial dysmorphisms, microcephaly, gastroesophageal reflux disease (GERD), and congenital heart defects. Management in the neonatal period focuses on associated comorbidities, including motor delay with or without GERD, which commonly manifests as feeding difficulties. Life span implications of chromosome 16p13.11 microdeletion syndrome include developmental, speech, and language delay; psychiatric and behavioral problems; seizure disorders; and, less commonly, obesity. Nursing assessment is critical to the early identification of nonspecific abnormalities associated with de novo genetic disorders. Early identification and diagnosis of chromosome 16p13.11 microdeletion syndrome are critical to optimizing outcomes throughout infancy and across the life span. We present a case report of an infant diagnosed with chromosome 16p13.11 microdeletion. A discussion of genetic influences, associated clinical manifestations, diagnostics, management, and health promotion strategies are presented to establish core knowledge of chromosome 16p13.11 microdeletion.

scholarly journals Phenotypic Diversity of 15q11.2 BP1–BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review

Diagnostics ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 722
Author(s):  
Ji Yoon Han ◽  
Joonhong Park
Keyword(s):  
Intellectual Disability ◽  
Literature Review ◽  
Behavioral Problems ◽  
Phenotypic Diversity ◽  
Case Series ◽  
Brain Morphology ◽  
Deletion Syndrome ◽  
Facial Dysmorphism ◽  
Speech Impairment ◽  
Korean Families

The 15q11.2 breakpoint (BP) 1–BP2 deletion syndrome is emerging as the most frequent pathogenic copy number variation in humans related to neurodevelopmental diseases, with changes in cognition, behavior, and brain morphology. Previous publications have reported that patients with 15q11.2 BP1–BP2 deletion showed intellectual disability (ID), speech impairment, developmental delay (DD), and/or behavioral problems. We describe three new cases, aged 3 or 6 years old and belonging to three unrelated Korean families, with a 350-kb 15q11.2 BP1–BP2 deletion of four highly conserved genes, namely, the TUBGCP5, CYFIP1, NIPA2, and NIPA1 genes. All of our cases presented with global DD and/or ID, and the severity ranged from mild to severe, but common facial dysmorphism and congenital malformations in previous reports were not characteristic. The 15q11.2 BP1–BP2 deletion was inherited from an unaffected parent in all cases. Our three cases, together with previous findings from the literature review, confirm some of the features earlier reported to be associated with 15q11.2 BP1–BP2 deletion and help to further delineate the phenotype associated with 15q11.2 deletion. Identification of more cases with 15q11.2 BP1–BP2 deletion will allow us to obtain a better understanding of the clinical phenotypes. Further explanation of the functions of the genes within the 15q11.2 BP1–BP2 region is required to resolve the pathogenic effects on neurodevelopment.

Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination

2018 ◽  
Vol 156 (2) ◽  
pp. 65-70
Author(s):  
Zhishuo Z. Ou ◽  
Sally Kochmar ◽  
Svetlana A. Yatsenko ◽  
Audrey C. Woerner ◽  
Roxanne Acquaro ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
De Novo ◽  
Chromosome Analysis ◽  
Bioinformatic Analysis ◽  
Deletion Syndrome ◽  
Fish Analysis ◽  
Feeding Difficulties ◽  
Low Copy Repeats ◽  
5P Deletion ◽  
Nonallelic Homologous Recombination

We describe a 5-month-old female who presented with clinical features of 5p deletion syndrome, including high-pitched cry, microcephaly, micrognathia, bilateral preauricular tags, bifid uvula, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay. In addition, the patient also had a cardiac defect, proximal esophageal atresia, and distal tracheoesophageal fistula. aCGH of the patient revealed a 22.9-Mb deletion of chromosome 5p15.33p14.3 and an 8.28-Mb duplication of chromosome 5q12.1q13.2. Parental chromosome analysis indicated that these alterations are de novo. Chromosome and FISH analysis demonstrated that the 5q12.1q13.2 duplicated segment was attached to the 5p14.3 region with the band 5q12.1 more distal to the centromere than the band 5q13.2. Based on the bioinformatic analysis, we postulate a mechanism for the formation of this complex rearrangement of chromosome 5 by 2-step-wise events mediate by nonallelic homologous recombination between low copy repeats. To the best of our knowledge this rearrangement found in our patient has not been reported in the literature. This report demonstrates the value of chromosome analysis in conjunction with FISH and aCGH for identification of complex rearrangements which cannot be revealed by array analysis alone.

scholarly journals Magnesium Supplement and the 15q11.2 BP1–BP2 Microdeletion (Burnside–Butler) Syndrome: A Potential Treatment?

2019 ◽  
Vol 20 (12) ◽  
pp. 2914 ◽  
Author(s):  
Merlin G. Butler
Keyword(s):  
Behavioral Problems ◽  
Clinical Severity ◽  
Brain Diseases ◽  
Medical Community ◽  
Type I ◽  
Cellular Functions ◽  
Motor Delay ◽  
Magnesium Transporters ◽  
Abnormal Brain ◽  
Paranoid Psychosis

The 15q11.2 BP1–BP2 microdeletion (Burnside–Butler) syndrome is an emerging disorder that encompasses four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5). When disturbed, these four genes can lead to cognitive impairment, language and/or motor delay, psychiatric/behavioral problems (attention-deficit hyperactivity, autism, dyslexia, schizophrenia/paranoid psychosis), ataxia, seizures, poor coordination, congenital anomalies, and abnormal brain imaging. This microdeletion was reported as the most common cytogenetic finding when using ultra-high- resolution chromosomal microarrays in patients presenting for genetic services due to autism with or without additional clinical features. Additionally, those individuals with Prader–Willi or Angelman syndromes having the larger typical 15q11–q13 type I deletion which includes the 15q11.2 BP1–BP2 region containing the four genes, show higher clinical severity than those having the smaller 15q11–q13 deletion where these four genes are intact. Two of the four genes (i.e., NIPA1 and NIPA2) are expressed in the brain and encode magnesium transporters. Magnesium is required in over 300 enzyme systems that are critical for multiple cellular functions, energy expenditure, protein synthesis, DNA transcription, and muscle and nerve function. Low levels of magnesium are found in those with seizures, depression, and acute or chronic brain diseases. Anecdotally, parents have administered magnesium supplements to their children with the 15q11.2 BP1–BP2 microdeletion and have observed improvement in behavior and clinical presentation. These observations require more attention from the medical community and should include controlled studies to determine if magnesium supplements could be a treatment option for this microdeletion syndrome and also for a subset of individuals with Prader–Willi and Angelman syndromes.

Insulin-dependent Diabetes Mellitus

1994 ◽  
Vol 15 (4) ◽  
pp. 137-148
Author(s):  
Leslie Plotnick
Keyword(s):  
Diabetes Mellitus ◽  
Children And Adolescents ◽  
Plasma Glucose ◽  
Behavioral Problems ◽  
Insulin Dependent Diabetes Mellitus ◽  
Health Care Team ◽  
Insulin Dependent Diabetes ◽  
Dependent Diabetes Mellitus ◽  
Type I ◽  
Insulin Dependent

Insulin-dependent diabetes mellitus (IDDM) is a chronic, serious disease in children and adolescents. Its diagnosis is straightforward and rarely subtle. The major challenges of this disease for the child, family, and health-care team involve long-term management of medical and metabolic factors as well as psychological and behavioral concerns. While developments in the past 10 to 15 years have made metabolic control technically possible, psychological stresses and behavioral problems often interfere with metabolic goals. There are few, if any, other diseases that require such intensive and extensive self-care skills. Definitions Diabetes generally is classified in two types. Type I, or IDDM, is seen mostly in younger people (children and adolescents). It previously was called juvenile onset or ketosisprone. Insulin deficiency characterizes IDDM, and patients need exogenous insulin for survival. Type II, or non-IDDM (NIDDM), previously called adult or maturity onset, is the type seen most commonly in older people and in obesity and is not discussed in this review. To make a diagnosis of diabetes, a child must have either classic symptoms with a random plasma glucose above 200 mg/dL or specific plasma glucose levels before and after a standard glucose load if asymptomatic. The diagnosis of IDDM usually is clear-cut.

scholarly journals Successful Management of Feeding Difficulties in Patient with Severe Bilateral Cleft Lip and Palate

2014 ◽  
Vol 4 (2) ◽  
pp. 124-126
Author(s):  
Dimple Padawe ◽  
Vilas Takate ◽  
Tanay Gunjikar
Keyword(s):  
Cleft Lip ◽  
Developmental Disorder ◽  
Cleft Lip And Palate ◽  
Failure To Thrive ◽  
Later Life ◽  
Successful Management ◽  
Feeding Difficulties ◽  
Psychological Maladjustment ◽  
Bilateral Cleft Lip ◽  
Feeding Plate

ABSTRACT Cleft lip and palate is one of the most common developmental disorder found in humans. A child born with cleft lip and palate has plethora of complex problems, such as feeding difficulties, middle ear diseases, dentofacial abnormalities, slow weight gain, and even failure to thrive. Feeding difficulties are the main cause of distress for both the child and mother, and may also lead to psychological maladjustment of child in later life. Various methods have been described to overcome feeding difficulties faced child and mother. This case report describes a case of severe bilateral cleft lip and palate (Veau's class IV cleft) successfully managed by fabrication of simple feeding plate and counseling of mother. How to cite this article Padawe D, Takate V, Gunjikar T. Successful Management of Feeding Difficulties in Patient with Severe Bilateral Cleft Lip and Palate. J Contemp Dent 2014; 4(2):124-126.

scholarly journals A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Lulu Yan ◽  
Ru Shen ◽  
Zongfu Cao ◽  
Chunxiao Han ◽  
Yuxin Zhang ◽  
...  
Keyword(s):  
De Novo ◽  
Genetic Disorder ◽  
Neurodevelopmental Disorder ◽  
Three Dimensional ◽  
Missense Variant ◽  
Pathogenic Variant ◽  
Dimensional Structure ◽  
Chinese Family ◽  
Speech Impairment ◽  
Pathogenic Variants

PPP2R5D-related neurodevelopmental disorder, which is mainly caused by de novo missense variants in the PPP2R5D gene, is a rare autosomal dominant genetic disorder with about 100 patients and a total of thirteen pathogenic variants known to exist globally so far. Here, we present a 24-month-old Chinese boy with developmental delay and other common clinical characteristics of PPP2R5D-related neurodevelopmental disorder including hypotonia, macrocephaly, intellectual disability, speech impairment, and behavioral abnormality. Trio-whole exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variant. The pathogenicity of the variant was evaluated using bioinformatics tools. We identified a novel pathogenic variant in the PPP2R5D gene (c.620G>T, p.Trp207Leu). The variant is located in the variant hotspot region of this gene and is predicted to cause PPP2R5D protein dysfunction due to an increase in local hydrophobicity and unstable three-dimensional structure. We report a novel pathogenic variant of PPP2R5D associated with PPP2R5D-related neurodevelopmental disorder from a Chinese family. Our findings expanded the phenotypic and mutational spectrum of PPP2R5D-related neurodevelopmental disorder.

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