Translocation Down’s syndrome

Among the 500 Down syndrome children karyotyped , 15 (3%) were due to translocation; 10 were 21;21 translocation and five 14;21. There were 9 cases of de novo translocations, while 6 were inherited from father or mother. Family history was characteristic in all the translocation cases, with younger parental age, fetal wastage in the family, recurrence and with the affected child often being either the first or the only liveborn in the family. The pattern of translocation in Madras and the significance of family history in genetic counselling are discused.     

West syndrome associated with Down syndrome: Case report and literature review

West syndrome is the most frequent cause of epilepsy in Down syndrome. West syndrome is often associated with poor long-term prognosis in most of children. We report a girl with West syndrome associated with Down syndrome which occurred at 8 months of age for repetitive flexor spasms and electroencephalography (EEG) showed hypsarrhythmia. She had Down syndrome facies, microcephaly, psychomotor development delay and axial hypotonia. Computed tomography of the brain was normal. Her karyotype was 47, XX, +21. Phenobarbital therapy was immediately effective with good clinical control of seizures, while the EEG monitored after one month was unchanged. At 2 years of age, the patient had hypertonic status epilepticus following a lung infection. The EEG showed a persistence of hypsarrhythmia. Sodium valproate and hydrocortisone therapy was effective with good seizure control but her psychomotor development was severely impaired. After a follow-up of 7 years, the patient presents growth retardation, microcephaly, severe psychomotor development delay, generalized hypotonia and tetraparesis. Knowledge of West syndrome in Down syndrome allows the early detection and prompt management of this neurological complication in order to optimize psychomotor development and improve the quality of life of these children.     

Stenosis of pulmonary veins in Down syndrome

Two patients with Down syndrome, intracardiac communications and elevated pulmonary arteriolar resistance presented early in life. Both patients had significant stenosis of pulmonary veins. The progressive nature of the stenosis is illustrated in one patient. Pulmonary venous stenosis in Down syndrome has been recorded only twice before in the literature, and may play a part in the early onset of pulmonary vascular occlusive disease in some patients.     

Neonatal haemochromatosis associated with Down syndrome

Methodology: The clinical course of a child with neonatal haemochromatosis associated with Down syndrome is described, using case notes and post-mortem examination.
Results: The patient died of liver failure on day 36. Post-mortem examination showed siderosis of liver, pancreas, heart, kidney and thyroid.
Conclusions: Neonatal haemochromatosis is a rare paediatric disease, the aetiology of which is unknown. Evidence suggests a disorder of fetoplacental iron handling with implications for recurrence in future pregnancies.     

An anthropometric study of body size in Down syndrome

Thirty anthropometric measurements were recorded in 59 cases of Down syndrome. The most affected segments of the body were length and circumference of the head. The head form in Down syndrome varied from brachycephaly to hyperbrachycephaly, and a flat occiput. Down syndrome cases were notably shorter in stature, however, trunk height was only slightly reduced. Legs were more severely affected. Shortness of stature was due to failure of the legs to grow in normal fashion. Dimensions of face lagged in both height and width. The Down syndrome cases retained their round facies. Ears were small in size. This represents persistence of infantile body proportions. Weight was only slightly reduced.     

Medical management of children with Down syndrome

Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifiable cause of learning disability. Despite current prenatal screening practice birth prevalence continues to be around 1/1000 live births.Children with Down syndrome have an increased risk of congenital abnormalities and a wide range of treatable medical problems. Paediatricians have a key role in ensuring that these are recognized and treated so that the children's progress is not hampered by additional secondary but preventable disability, and health problems do not prevent them reaching their potential.In this article we consider the Paediatrician's role with a suggested approach to medical management throughout childhood, and a review of the most frequently occurring health issues. These include cardiac, respiratory, gastrointestinal and haematological disorders, thyroid dysfunction, hearing and vision problems, cervical spine and other orthopaedic problems, immune and autistic spectrum disorders, growth and sexual development.     

Primary care for children and adolescents with Down syndrome

This article reviews the general health care guidelines pertaining to pediatric patients with Down syndrome and presents, in a systems-based approach, an update of the current evidence behind these guidelines. To ensure the best possible long-term outcome for these patients, clinicians should provide routine well-child examinations and immunizations while maintaining a high index of suspicion for comorbid conditions more common in Down syndrome. The primary care provider should be prepared to provide information on community resources, to coordinate care with subspecialists, and to refer to early intervention services as soon as the diagnosis is made.     

Transient leukemia in newborns with Down syndrome

Children with Down syndrome (DS) have a 10- to 20-fold increased risk of developing leukemia, particularly acute megakaryocytic leukemia. Newborns with DS or trisomy 21 mosaicism may exhibit a particularly unique form of leukemia that historically has been associated with a high rate of spontaneous remission. This transient leukemia (TL) has been shown to be a clonal proliferation of blast cells exhibiting megakaryocytic features. Its true incidence remains to be determined. At presentation, many infants are clinically well with only an incidental finding of abnormal blood counts and circulating blasts in the peripheral blood. However, in approximately 20% of cases, the disease is severe and life-threatening, manifesting as hydrops faetalis, multiple effusions, and liver or multi-organ system failure resulting in death. Of those children who enter a spontaneous remission, 13-33% have been found to develop subsequent acute megakaryoblastic leukemia, usually within the first 3 years of life, which if left untreated is fatal. This unique TL of the DS newborn has been the subject of recent clinical cooperative group trials as well as many biological and genetic research efforts. We summarize here the known clinical, biological, and cytogenetic features of TL associated with DS.     

Cholelithiasis in infants with Down syndrome: report of two cases

Down syndrome is a chromosomal disorder most often observed in the newborn period. Various facial, limb and internal abnormalities are found in this disorder but cholelithiasis in infancy has been described in only one report. We report two infants with Down syndrome associated with cholelithiasis. Except for polycythemia and indirect hyperbilirubinemia, no hemolytic process or biochemical abnormalities were evident in both patients. We believe that the cause of gallstones in our cases may have been polycythemia in the newborn period. To our knowledge this is only the second report of gallstones in infancy in Down syndrome.     

Empathy and response to distress in children with Down syndrome

BACKGROUND: Most studies of empathy have focused on young children, and those who are typically developing. Thus, we know little about the emergence and manifestation of empathy in non-normally developing children. METHOD: Empathy and response to distress in others were examined in 30 children with Down syndrome, 22 children with nonspecific etiologies of mental retardation, and 22 typically developing children. RESULTS: Results indicated that compared to the other children, children with Down syndrome responded to distress in others by looking to them more, and offering more comfort in the form of prosocial responses. However, in a hypothetical empathy situation, children with Down syndrome were less likely to feel the same emotion as the protagonist than were the typical children. Children with Down syndrome differed from the children with nonspecific mental retardation only in their response to distress in others. The children with nonspecific mental retardation were more similar to than different from the MA-matched typical children. CONCLUSIONS: These results suggest some etiology-associated differences in empathy and response to distress in children with mental retardation.     

Integrated care for Down syndrome

Down syndrome (DS), caused by an extra copy of chromosome 21 (trisomy 21), is the most intensively studied human aneuploidy condition. It is the leading cause of intellectual disability and birth defects. Although most prenatally diagnosed DS fetuses are aborted in Taiwan, there are still some infants with DS who are diagnosed after birth. In addition to intellectual disability, people with DS face systemic problems that include short stature, dysmorphism, congenital heart disease, congenital anomalies of gastrointestinal and genitourinary tracts, abnormal endocrine function, leukemia and leukemoid reactions. To provide better care for people with DS in Taiwan, we began the DS multi‐disciplinary clinic that has opened once per month since November 2013. The multi‐disciplinary clinic consists of several subspecialists who provide care for DS people. To date, approximately 200 patients have used the clinic. The average number of patients who use the clinic per month is 27±6 with a mean patient age of 16±12 years old (range 0.3–53 years). The average number of patients per specialist on each clinic day is 5.2±4.9 (range 0.5–20.9 patients). We focus on early detection and prevention of medical and developmental issues associated with DS. This coordinated approach allows DS patients and family to have more comprehensive care.     

Down syndrome and mild kidney dysfunction

Few studies have evaluated kidney function in children with Down syndrome (DS) in detail. This study investigated kidney function in pediatric DS patients without complications that affect kidney function. Creatinine (Cr)‐ and cystatin C (cysC)‐based estimated glomerular filtration rate (eGFR) were measured in a cohort of Japanese DS patients. The kidney function in these children with DS was approximately 80% that of the healthy Japanese children, suggesting that children with DS have smaller kidneys or a lower number of glomeruli than children without DS.     

Sensory evoked potentials in infants with Down syndrome

Aim: To investigate the sensory functions of the peripheral to central pathways in infants with Down syndrome (DS) by sensory evoked potentials. Methods: Fifty-five infants, 30 DS infants and 25 controls, were examined by multimodal evoked potentials, including brainstem auditory evoked potentials (BAEP), visual evoked potentials (VEP) and short-latency somatosensory evoked potentials (SSEP). Results: No obvious difference was found in the peak latencies between the two groups for BAEP. Nine children with DS showed abnormal BAEP; six had hearing loss and three had prolonged wave I latencies. For VEP, the peak latencies of P₂ and N₂ were significantly longer and the amplitudes were smaller in the DS group than in the control group. Of the 30 infants with DS, five had significantly prolonged P₂ latencies and two had lower amplitudes. In SSEP, the mean latencies of N₂₀ and the interpeak latencies of N₁₃-N₂₀ of the infants with DS showed apparent prolongation compared to the controls. Seven of 30 (23.3%) DS patients had prolonged N₂₀ latencies.

Conclusion: Our results indicate that various sensory deficits occur in patients with DS during the first year of life.     

Vincristine pharmacokinetics in children with Down syndrome

Children with Down syndrome (DS), who represent about 2% of childhood acute lymphoblastic leukemia, have inferior prognosis compared to non-DS children. For vincristine (and many other anticancer agents) pharmacokinetic data are scant or missing, and there is considerable uncertainty about the optimal dosing of drugs to patients with DS. We studied vincristine pharmacokinetics on treatment day one in six children with DS and compared to 92 non-DS children. No differences were found. Thus, we found no rationale for dose reduction of vincristine in DS children from a strictly pharmacokinetic point of view.     

Echocardiography in children with Down syndrome

Congenital heart disease is a common problem in children with Down syndrome (DS). Echocardiography plays an important role in the detection of both structural and functional abnormalities in this group of patients. Fetal echocardiography can help in the early recognition of DS by detecting soft markers of DS, but its main role is to define the exact nature of the suspected cardiac problem in the fetus. Postnatal echocardiography is mandatory in the first month of life for all neonates with DS. It is also indicated before any cardiac surgery and for serial follow-up after cardiac surgery. In this article, we discuss the types and mechanism of cardiac abnormalities in DS children and the role of both fetal and postnatal echocardiography in the detection of these abnormalities.     

Hodgkin's disease in association with Down syndrome: a case report

The increased incidence of malignancies, especially acute leukemia, in Down syndrome has been clearly established. The association of Hodgkin's disease with Down syndrome has not been extensively documented, and only a few cases have been reported. We present here a case report of Hodgkin's disease in an 11-year-old female child with Down syndrome. The child presented with a stage IVB nodular sclerotic Hodgkin's disease and died of progressive disease. We also present a brief review of the mechanisms of development of malignancy in Down syndrome.     

Myelosuppression and infectious complications in children with Down syndrome and acute lymphoblastic leukemia

Children with Down syndrome (DS) bear an increased risk of acute lymphoblastic leukemia (ALL) and treatment complications. We compared blood counts and toxicities in 22 DS and 44 non‐DS ALL patients. Patients with DS had deeper, longer neutrophil and monocyte count nadirs; more toxicities (HR 2.0, P = 0.0005); longer hospitalizations (HR 1.4, P < 0.0001); and more frequent microbiologically documented infections (HR 5.7, P = 0.0019), mucositis (HR 29.0, P = 0.0006), and cellulitis (HR 3.0, P = 0.033). Severe neutropenia, monocytopenia, and increased cellulitis in DS‐ALL suggest the importance of skin hygiene, vigilance and aggressive treatment of cutaneous infections. Pediatr Blood Cancer 2012; 58: 633–635. © 2011 Wiley Periodicals, Inc.     

An evaluation of cell therapy in Down syndrome

A group of children with Down syndrome who were being treated with cell therapy was matched for age and sex with an untreated control group. Comparisons were made between the groups with respect to a number of developmental and physical variables which have been reported to be influenced by cell therapy. Of 55 comparisons made between treated and control groups, two differences were statistically significant. This study failed to show sufficient significant results for the treatment to be regarded as effective.     

Keeping children and young people with Down syndrome healthy

Down syndrome (trisomy 21) is a common identifiable cause of intellectual disability. People with Down syndrome are individuals, and while there are many shared characteristics, there is considerable variability in how the syndrome manifests. Understanding the condition and its impact on individual lives can help maintain and promote health, and enable individuals to achieve their potential. There are some conditions that are more frequently seen in individuals with Down syndrome, and as such it is important not to fall into the trap of labelling all symptoms as ‘part of Down syndrome’. Awareness of some of the more frequently seen conditions will help in understanding and aid timely investigation and management - enabling individuals to access the support and care they need. In this article, we focus on our role as health professionals in supporting families, children and young people with Down syndrome. We describe some of the conditions seen more commonly in individuals with Down syndrome and our role in screening, identification and management of these.