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Arun O, Oc B, Metin EN, Sert A, Yilmaz R, Oc M. Anesthetic management of a child with Cornelia de Lange Syndrome undergoing open heart surgery: A case report. World J Cardiol 2022; 14:54-63. [PMID: 35126872 PMCID: PMC8788174 DOI: 10.4330/wjc.v14.i1.54] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/02/2021] [Revised: 07/14/2021] [Accepted: 12/21/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Cornelia de Lange syndrome (CdLS) is a congenital multisystemic genetic disorder. The expected lifespan of children with this disorder has been prolonged in parallel with the advances in medicine in recent years. However, they still more frequently undergo cardiac surgery. There are some challenges for clinicians when faced with CdLS patients. We present the perioperative management of a child with CdLS undergoing open-heart surgery. CASE SUMMARY Severe pulmonic and subpulmonic valvular stenosis, enlargement of the right side of the heart, mild tricuspid regurgitation, atrial septal defect, and patent ductus arteriosus were diagnosed in a 14-month-old boy with manifested cyanosis, developmental delay, and malnutrition. Attempted balloon valvuloplasty was unsuccessful due to a severe stenotic pulmonary valve, therefore it was decided to perform an open surgical repair. Following a successful and uncomplicated intraoperative course, the patient was extubated on postoperative day 5, and adrenalin and dopamine infusions were gradually decreased and stopped on postoperative days 6 and 10, respectively. Moderate laryngomalacia and suboptimal vocal cord movements were diagnosed, and tracheotomy and percutaneous endoscopic gastrostomy were performed under general anesthesia in the same session at postoperative day 32. The patient was discharged on postoperative day 85 after a challenging postoperative period with additional airway and nutritional problems. CONCLUSION This is the first report of the perioperative anesthetic and clinical management of a CdLS patient undergoing open-heart surgery.
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Affiliation(s)
- Oguzhan Arun
- Department of Anesthesiology and Reanimation, Selcuk University Faculty of Medicine, Konya 42130, Turkey.
| | - Bahar Oc
- Department of Anesthesiology and Reanimation, Selcuk University Faculty of Medicine, Konya 42130, Turkey
| | - Esma Nur Metin
- Department of Anesthesiology and Reanimation, Selcuk University Faculty of Medicine, Konya 42130, Turkey
| | - Ahmet Sert
- Department of Pediatric Cardiology, Selcuk University Faculty of Medicine, Konya 42130, Turkey
| | - Resul Yilmaz
- Pediatric Intensive Care, Selcuk University Faculty of Medicine, Konya 42130, Turkey
| | - Mehmet Oc
- Department of Cardiovascular Surgery, Selcuk University Faculty of Medicine, Konya 42130, Turkey
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Parma B, Cianci P, Decimi V, Mariani M, Provero MC, Funari C, Tajè S, Apuril E, Cereda A, Panceri R, Maitz S, Fossati C, Selicorni A. Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum. Am J Med Genet A 2020; 182:2094-2101. [PMID: 32648352 DOI: 10.1002/ajmg.a.61749] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/07/2019] [Revised: 05/28/2020] [Accepted: 06/07/2020] [Indexed: 01/09/2023]
Abstract
Cornelia de Lange syndrome Spectrum (CdLSp) is characterized by intellectual disability, facial dysmorphisms, and growth impairment. Although eating difficulties are a well-known feature of the disease, there is no data regarding the nutritional deficiencies of these patients. The food intake was tracked using a dietary transcription provided by the family/caregivers, biochemical nutritional parameters were measured with laboratory tests and through an accurate clinical evaluation of the incidence of qualitative and quantitative imbalances in a cohort of 73 patients with CdLSp ware determined. Of these 73, 62 (85%) subjects provided a complete and detailed dietary transcription. In the studied population, a quantitative caloric imbalance in 47/62 (76%) subjects was observed. The caloric intake was low in 27/62 (43%) subjects whereas excessive in 20/62 (33%). Only 15/62 (24%) had an optimum caloric intake. Regarding micronutrients, a calcium intake deficiency in 32% of the patients (20/62) was observed. Blood tests revealed a low iron level in 22/73 (30%) of the patients and 25(OH)D deficiency in 49/73 (67%). Serum hypocalcemia was not evidenced. Qualitative and quantitative imbalances resulted in more frequent than expected in CdLSp patients. A qualitative imbalance was more prevalent in younger patients while in older patients prevailed mainly a quantitative disproportion. We found no statistically meaningful correlation between dietary imbalances, genetic, or clinical parameters. Our findings highlight the need for further studies to evaluate the basal metabolic rate of CdLSp patients and find a correlation with their growth impairment.
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Affiliation(s)
- Barbara Parma
- Department of Pediatrics, ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy
| | - Paola Cianci
- Department of Pediatrics, ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy
| | | | - Milena Mariani
- Department of Pediatrics, ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy
| | | | - Caterina Funari
- Department of Pediatrics, ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy
| | - Silvia Tajè
- Department of Pediatrics, ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy
| | - Erika Apuril
- Department of Pediatrics, ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy
| | - Anna Cereda
- Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy
| | - Roberto Panceri
- Department of Pediatrics, San Gerardo Hospital, Monza, Italy
| | - Silvia Maitz
- Department of Pediatrics, San Gerardo Hospital, Monza, Italy
| | - Chiara Fossati
- Department of Pediatrics, San Gerardo Hospital, Monza, Italy
| | - Angelo Selicorni
- Department of Pediatrics, ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy
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3
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Richardson TL, Ransom M, Crane G, Plosa E, Sucre J. Case 3: Emesis in a Term Infant with Dysmorphic Features. Neoreviews 2020; 21:e127-e130. [PMID: 32005724 PMCID: PMC7081374 DOI: 10.1542/neo.21-2-e127] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/10/2023]
Affiliation(s)
| | | | | | - Erin Plosa
- Division of Neonatology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN
| | - Jennifer Sucre
- Division of Neonatology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN
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4
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Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet 2018; 19:649-666. [PMID: 29995837 PMCID: PMC7136165 DOI: 10.1038/s41576-018-0031-0] [Citation(s) in RCA: 231] [Impact Index Per Article: 33.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
Abstract
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
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Affiliation(s)
- Antonie D Kline
- Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, MD, USA
| | - Joanna F Moss
- Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK
| | - Angelo Selicorni
- Department of Paediatrics, Presidio S. Femro, ASST Lariana, Como, Italy
| | - Anne-Marie Bisgaard
- Kennedy Centre, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Glostrup, Denmark
| | - Matthew A Deardorff
- Division of Human Genetics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
| | - Peter M Gillett
- GI Department, Royal Hospital for Sick Children, Edinburgh, Scotland, UK
| | - Stacey L Ishman
- Departments of Otolaryngology and Pulmonary Medicine, Cincinnati Children's Hospital Medical Centre, University of Cincinnati, Cincinnati, OH, USA
| | - Lynne M Kerr
- Division of Pediatric Neurology, Department of Paediatrics, University of Utah Medical Centre, Salt Lake City, UT, USA
| | - Alex V Levin
- Paediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA
| | - Paul A Mulder
- Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands
| | - Feliciano J Ramos
- Unit of Clinical Genetics, Paediatrics, University Clinic Hospital 'Lozano Blesa' CIBERER-GCV02 and ISS-Aragón, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, Zaragoza, Spain
| | - Jolanta Wierzba
- Department of Paediatrics, Haematology and Oncology, Department of General Nursery, Medical University of Gdansk, Gdansk, Poland
| | - Paola Francesca Ajmone
- Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - David Axtell
- CdLS Foundation UK and Ireland, The Tower, North Stifford, Grays, Essex, UK
| | - Natalie Blagowidow
- Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA
| | - Anna Cereda
- Department of Paediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy
| | - Antonella Costantino
- Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Valerie Cormier-Daire
- Department of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France
| | - David FitzPatrick
- Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK
| | - Marco Grados
- Division of Child and Adolescent Psychiatry, John Hopkins University School of Medicine, Baltimore, MD, USA
| | - Laura Groves
- Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK
| | - Whitney Guthrie
- Centre for Autism Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA
| | - Sylvia Huisman
- Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
| | - Frank J Kaiser
- Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany
| | | | - Mary Levis
- Wicomico County Board of Education, Salisbury, MD, USA
| | - Milena Mariani
- Clinical Paediatric Genetics Unit, Paediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, Monza, Italy
| | - Joseph P McCleery
- Centre for Autism Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA
| | - Leonie A Menke
- Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
| | | | - Julia O'Connor
- Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA
| | - Chris Oliver
- Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK
| | - Juan Pie
- Unit of Clinical Genetics, Paediatrics, University Clinic Hospital 'Lozano Blesa' CIBERER-GCV02 and ISS-Aragón, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, Zaragoza, Spain
| | - Sigrid Piening
- Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands
| | - Carol J Potter
- Department of Gastroenterology, Nationwide Children's, Columbus, OH, USA
| | - Ana L Quaglio
- Genética Médica, Hospital del Este, Eva Perón, Tucumán, Argentina
| | - Egbert Redeker
- Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
| | - David Richman
- Department of Educational Psychology and Leadership, Texas Tech University, Lubbock, TX, USA
| | - Claudia Rigamonti
- Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Angell Shi
- The Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA
| | - Zeynep Tümer
- Kennedy Centre, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Glostrup, Denmark
| | - Ingrid D C Van Balkom
- Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands
- Rob Giel Research Centre, Department of Psychiatry, University Medical Centre Groningen, Groningen, Netherlands
| | - Raoul C Hennekam
- Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.
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5
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Decimi V, Parma B, Panceri R, Fossati C, Mariani M, Russo S, Gervasini CC, Cheli M, Cereda A, Selicorni A. Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort. Am J Med Genet A 2018; 176:1865-1871. [DOI: 10.1002/ajmg.a.40372] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/25/2017] [Revised: 05/22/2018] [Accepted: 05/28/2018] [Indexed: 01/21/2023]
Affiliation(s)
| | - Barbara Parma
- Department of Pediatrics. ASST‐Lariana. Sant'Anna Hospital San Fermo della Battaglia (Como) Italy
| | - Roberto Panceri
- Department of PediatricsUniversità Milano Bicocca Monza Italy
| | - Chiara Fossati
- Department of PediatricsUniversità Milano Bicocca Monza Italy
| | - Milena Mariani
- School of Specialization in Medical GeneticsUniversity of Milan Milan Italy
| | - Silvia Russo
- Laboratory of Molecular GeneticsIstituto Auxologico Italiano Milano Italy
| | - Cristina C. Gervasini
- Medical Genetics, Department of Health SciencesUniversità degli Studi di Milano Milano Italy
| | - Maurizio Cheli
- Department of Pediatric SurgeryASST Papa Giovanni XXIII Bergamo Italy
| | - Anna Cereda
- Department of PediatricsASST Papa Giovanni XXIII Bergamo Italy
| | - Angelo Selicorni
- Department of Pediatrics. ASST‐Lariana. Sant'Anna Hospital San Fermo della Battaglia (Como) Italy
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6
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Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation. Case Rep Genet 2012; 2012:247683. [PMID: 23304577 PMCID: PMC3529426 DOI: 10.1155/2012/247683] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2012] [Accepted: 11/21/2012] [Indexed: 11/18/2022] Open
Abstract
Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus. This is the third report of Cornelia de Lange syndrome and imperforate anus.
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7
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Johns DA, Bhonsale DL, Shivashanker VY, Johns M. Aesthetic and functional management of a patient with Cornelia de Lange syndrome. Contemp Clin Dent 2012; 3:S86-91. [PMID: 22629076 PMCID: PMC3354795 DOI: 10.4103/0976-237x.95113] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
Abstract
Cornelia de Lange syndrome is a syndrome of multiple congenital anomalies. The genetic and molecular bases of these lesions are not clear. It is divided into three types based on the severity of the anomaly. Dental findings revealed contracted maxilla, malaligned teeth, multiple impacted and missing teeth. This article describes the successful management of upper central incisor with lateral opening in the apical third on the mesial surface of the root along with aesthetic and functional rehabilitation.
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8
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Somerville H, Tzannes G, Wood J, Shun A, Hill C, Arrowsmith F, Slater A, O'Loughlin EV. Gastrointestinal and nutritional problems in severe developmental disability. Dev Med Child Neurol 2008; 50:712-6. [PMID: 18754923 DOI: 10.1111/j.1469-8749.2008.03057.x] [Citation(s) in RCA: 30] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
Abstract
The aim of this study was to describe the experience of 452 children and adults with a severe developmental disability who presented to a multidisciplinary clinic with swallowing, nutritional, and gastrointestinal problems. Data were obtained by chart review. Two hundred and ninety-four children (age range 7 mo-19 y, 173 males, 121 females) and 158 adults (age range 18-53 y; 90 males, 68 females) were assessed over 5 years. One hundred and eighty-two children and 86 adults had cerebral palsy. Approximately 90% were wheelchair dependent and totally dependent on caregivers for feeding; 60% had epilepsy. Pulmonary aspiration was identified by oesophageal videofluoroscopy in 41% of 174 children and 47% of 34 adults. Chronic oesophagitis and Helicobacter pylori were found in 57% of 182 children and 76% of 66 adults undergoing endoscopy. Chronic suppurative lung disease was identified by computerized axial tomography in 94% of 62 children and all six adults studied. Most patients improved with simple interventions. However, gastrostomy was recommended in 140 children and performed in 91, and in 10 adults but performed in seven, whereas fundoplication was recommended in 111 children and performed in 74, and in six adults but performed in two. In conclusion, chronic oesophagitis, pulmonary aspiration, and chronic lung disease were identified in many patients with a severe developmental disability.
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Affiliation(s)
- Helen Somerville
- The Children's Hospital at Westmead, Westmead, New South Wales, Australia
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9
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Cossu MC, Nava I, Leoni S, Piccardi L. Neuropsychological rehabilitation in a case of Cornelia de Lange syndrome. Neuropsychol Rehabil 2005; 15:147-60. [PMID: 16353507 DOI: 10.1080/09602010443000092] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/23/2022]
Abstract
Cornelia de Lange syndrome is a rare congenital disorder. Symptoms include a characteristic facial structure, pre- and post-natal growth deficiency, hypertrichosis, and visceral and cardiovascular anomalies. Behavioural problems and moderate to severe mental retardation are also present. In this paper, we report a mild case of Cornelia de Lange syndrome. The neuropsychological rehabilitation of this patient is also described. It was structured on the patient's specific areas of strength and weakness in order to facilitate the development of adaptive cognitive abilities. To maximise the learning potential of these children, we recommend specific interventions with a multidimensional neuropsychological approach, which considers developmental abilities and disabilities as related to the global reality of the child.
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Affiliation(s)
- M C Cossu
- IRCCS Fondazione Santa Lucia, Riabilitazione Infantile, Servizio di Neuropsicologia dell'età evolutiva, Via Ardeatina, 306, 00179 Roma-Italia.
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10
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Moss J, Oliver C, Hall S, Arron K, Sloneem J, Petty J. The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH : JIDR 2005; 49:269-277. [PMID: 15816814 DOI: 10.1111/j.1365-2788.2005.00649.x] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/24/2023]
Abstract
BACKGROUND There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events was examined. METHOD A descriptive analysis of observational data on eight children with Cornelia de Lange syndrome aged between 4 and 14 years was carried out. The association between self-injurious behaviour and four environmental setting events and between specific environmental events and setting events was examined using established statistical methods for observational data. RESULTS Seven out of eight of the participants showed at least one form of self-injurious behaviour that was associated with a particular setting event. The study also demonstrated that the relationship between setting events and environmental events is extremely variable across individuals. CONCLUSIONS Self-injurious behaviour in some individuals with Cornelia de Lange syndrome is associated with environmental events although the precise nature of the association warrants clarification. Using broad setting events as a methodological tool in isolation provides some insight into the role of specific environmental factors in maintaining self-injurious behaviour but the integrity of setting events must be established.
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Affiliation(s)
- J Moss
- School of Psychology, University of Birmingham, Birmingham, UK
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11
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Luzzani S, Macchini F, Valadè A, Milani D, Selicorni A. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am J Med Genet A 2003; 119A:283-7. [PMID: 12784293 DOI: 10.1002/ajmg.a.20191] [Citation(s) in RCA: 82] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/10/2022]
Abstract
As previously reported, gastroesophageal reflux (GER) is a frequent and severe medical complication of Cornelia de Lange syndrome (CDLS). The incidence of GER and the correlation between its presence and degree, and the clinical phenotype of CDLS (mild/classical according to Van Allen classification) were evaluated in a series of 43 patients. The pattern of presenting symptoms and their clinical evolution after medical or surgical treatment were also studied. A pathological GER was evident in 28/43 (65%) CDLS patients. The incidence of the complication was not significantly different in patients with classical (93.3%) vs. mild phenotype (82.3%), whereas a strong correlation was present between the degree of the esophageal damage and the clinical phenotype. A behavioral symptom (hyperactivity) was the most frequent sign associated with the condition (85%). Our data confirm the high occurrence of GER in CDLS patients, independently from the CDLS clinical phenotype. Regarding the severity of the esophageal lesions, a significant difference between the two clinical CDLS phenotypes was found. The evaluation of the presenting symptoms and of their evolution during the treatment emphasizes the importance of behavioral symptoms as major signs of esophageal damage in CDLS.
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Affiliation(s)
- S Luzzani
- Paediatric Surgery Department, ICP Milan, Milan, Italy
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12
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Miller JL, Sonies BC, Macedonia C. Emergence of oropharyngeal, laryngeal and swallowing activity in the developing fetal upper aerodigestive tract: an ultrasound evaluation. Early Hum Dev 2003; 71:61-87. [PMID: 12614951 DOI: 10.1016/s0378-3782(02)00110-x] [Citation(s) in RCA: 76] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
Abstract
The developing fetal upper aerodigestive system provides the structural support for respiratory and ingestive functions necessary to sustain life at birth. This study investigated prenatal development of upper aerodigestive anatomy and the association of emerging functions as predictors of postnatal feeding skills. Biometric measures of oral, lingual, pharyngeal and laryngeal structures were obtained in fetuses 15-38 weeks gestational age using a four-plane sonographic technique. Accompanying ingestive behaviors were tallied across development. The data from 62 healthy controls were compared to seven cases at risk for postnatal feeding and swallowing dysfunction (Type II Arnold Chiari Malformation, trisomy 18, polyhydramnios, intrauterine growth restriction, Brachmann-de Lange Syndrome). Significant (p<0.001) linear regressions occurred in pharyngeal and lingual growth across gestation while ingestive behavior such as suckling emerged in a sequence of basic to complex movement patterns. Jaw and lip movements progressed from simple mouth opening to repetitive open-close movements important for postnatal suckling. Lingual movements increased in complexity from simple forward thrusting and cupping to anterior-posterior motions necessary for successful suckling at term. Laryngeal movements varied from shallow flutter-like movements along the lumen to more complex and complete adduction-abduction patterns. Fetal swallowing primarily occurred in the presence of concomitant oral-facial stimulatory activity. Significant variations (p<0.01) in the form and function of the ingestive system occurred in comparisons of gestational age-matched controls to at-risk cases. We postulate that prenatal developmental indices of emerging aerodigestive skills may guide postnatal decisions for feeding readiness and, ultimately, advance the care of the premature, medically fragile neonate.
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Affiliation(s)
- Jeri L Miller
- Department of Rehabilitation Medicine, Physical Disabilities Branch, Room S6235, Building 10, Warren G. Magnuson Clinical Center, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.
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Macedonia C, Miller JL, Sonies BC. Power Doppler imaging of the fetal upper aerodigestive tract using a 4-point standardized evaluation: preliminary report. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2002; 21:869-878. [PMID: 12164572 DOI: 10.7863/jum.2002.21.8.869] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/23/2023]
Abstract
OBJECTIVE Our investigation of fetal swallowing has identified potential limitations in the use of color Doppler imaging for detection of amniotic fluid flow and discrimination of respiratory from ingestive activity. The objective of this study was to evaluate an alternative imaging modality, power Doppler sonography, as a technique to enhance detection of amniotic fluid flow in the upper aerodigestive tract. METHODS We applied a standardized 4-axis sonographic examination of upper aerodigestive structures and used power Doppler imaging to document amniotic fluid flow. Normal aerodigestive activities from 62 healthy control subjects were compared with 4 abnormal cases. RESULTS Our longitudinal experience with 66 subjects showed that a directed evaluation of the fetal upper aerodigestive tract with power Doppler imaging provided a systematic approach for studying the physiologic development of this region in both healthy and at-risk fetuses. CONCLUSIONS A standardized 4-axis examination with power Doppler imaging is a useful adjunct in addressing ingestive and respiratory functions in the developing fetus.
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Affiliation(s)
- Christian Macedonia
- Department of Obstetrics and Gynecology, National Naval Medical Center, Uniformed Services University, Bethesda, MD 20814, USA
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14
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Sarimski K. Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH : JIDR 1997; 41 ( Pt 1):70-75. [PMID: 9089461 DOI: 10.1111/j.1365-2788.1997.tb00678.x] [Citation(s) in RCA: 38] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/22/2023]
Abstract
Cornelia-de-Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, and in most cases, severe cognitive limitations. Parents of 27 children with Cornelia-de-Lange syndrome completed psychological questionnaires concerning communicative and social-emotional behaviours, and reported on their parenting stress. Only four children were able to use speech, but most of the older children expressed needs through non-verbal means. Feeding problems, over-activity, irritability and stereotyped behaviours were characteristic for the majority of the group. Self-injurious behaviours occur in more than 40%. Parenting stress is very high, especially in parents of older children.
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Ireland M. Cornelia de Lange syndrome: clinical features, common complications and long-term prognosis. ACTA ACUST UNITED AC 1996. [DOI: 10.1016/s0957-5839(96)80064-9] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/25/2022]
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Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. AMERICAN JOURNAL OF MEDICAL GENETICS 1993; 47:947-58. [PMID: 8291538 DOI: 10.1002/ajmg.1320470704] [Citation(s) in RCA: 71] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/29/2023]
Abstract
Seven patients, including two sibs, with the Brachmann-de Lange syndrome (BDLS) are presented as representative of the different types of BDLS in a proposed classification system. Type I ("classic") patients have the characteristic facial and skeletal changes of BDLS using the criteria in the diagnostic index of Preus and Rex. Type I is distinguished from the other subtypes by prenatal growth deficiency (< 2.5 S.D. below mean for gestation) becoming more severe postnatally (< 3.5 S.D. below the mean), moderate to profound psychomotor retardation, and major malformations which result in severe disability or death. Type II ("mild") BDLS patients have similar facial and minor skeletal abnormalities to those seen in type I; however, these changes may develop with time or may be partially expressed. Patients with type II BDLS are distinguished from those with other types by mild to borderline psychomotor retardation, less severe pre- and postnatal growth deficiency, and the absence of (or loss severe) major malformations. Behavioral problems can be a significant clinical problem in type II BDLS. Type III ("phenocopies") BDLS includes patients who have phenotypic manifestations of BDLS which are causally related to chromosomal aneuploidies or teratogenic exposures.
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Affiliation(s)
- M I Van Allen
- Department of Medical Genetics, University Hospital-Shaughnessy Site, University of British Columbia, Vancouver, Canada
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