Congenital Anomalies of the Limbs: Part I. Medical Aspects

As a preparatory step towards the development of a complete habilitation program for children with congenital limb anomalies associated with maternal ingestion of thalidomide, the medical records of all patients with congenital limb anomalies referred to the Rehabilitation Institute of Montreal in the past decade were studied, and an examination and a thorough reassessment were made of 41 patients (21 males and 20 females).In this paper, Part I, the medical and prosthetic aspects are dealt with and a form of management is described for each type of anomaly. The conclusions are reached that prosthetic fitting and training should be initiated very early in life and that co-operation of the parent is essential to successful habilitation of a child with congenital limb anomalies.     

Offspring of male and female parents with thalidomide embryopathy: birth defects and functional anomalies

BACKGROUND: The aim of the study was to evaluate congenital malformations and functional anomalies in the offspring of Swedish parents with thalidomide embryopathy (TE). METHODS: Sixty-four children (29 girls, 35 boys) with ages ranging from 0-18 years, born to 34 Swedish parents (14 women, 20 men) with TE, were studied. Data on malformations and dysfunction were collected from medical records at maternity and child healthcare units, delivery units, hospitals, outpatient clinics and schools. RESULTS: Five children had both a mother and father with TE, 23 had a mother suffering from TE, and in 36 children the father had TE. One girl had a major malformation consisting of pulmonary stenosis, and single cases of minor physical features and positional deformities were observed. One boy had autism. Four children were born preterm, all to a TE mother. One child died within 24 hr after birth. Seven spontaneous abortions were registered, five of them in TE mothers. The cesarian section rate was 39% among the TE mothers, compared to 14% among the non-TE mothers. CONCLUSIONS: Malformations or functional anomalies similar to those typical for TE were not found in this group of children born to Swedish parents with TE. Cesarian sections were more frequently performed in TE mothers, partly because of pelvic and uterine malformations.     

The prevalence of minor physical anomalies in mentally retarded children

The prevalence of minor physical anomalies was examined in a sample of 109 children with idiopathic mental retardation (65 boys and 44 girls). Control group consisted of 246 healthy schoolchildren (123 boys and 123 girls) aged 8 to 12 years. A comparison was made between number of found minor anomalies per child (W1) and their Waldrop weight scores (W2) in healthy and mentally retarded (MR) children. The MR children were found to have a higher number of minor anomalies per child. In their group predominated those with four or more anomalies (56.9%), whereas among healthy children only 7.7% had four anomalies or more. In contrast to the high weighted score value (W2) of five or greater in 36.7% of MR children, it was absent in all control group subjects. There were highly significant differences between the MR and healthy children in the average value of the number of minor anomalies per child (W1) and in the average weighted score (W2). The average number of minor anomalies per child (W1) in MR and well children was 3.65 and 1.7, respectively. In MR children the average weighted score (W2) was 3.82, being 1.46 in healthy children. Our results suggest that common etiological factors, which had led to a physical and mental disorder, were active early in the development of MR children. The finding of high incidence of multiple minor anomalies in MR children indicates that genetic factors may play an important role in the etiology of the underlying disorder in the child group studied.     

134 Battered Children: A Medical and Psychological Study

A controlled investigation of 134 battered children showed that nearly half had serious injuries and 21 died. Sixty-five had been battered more than once, 20 had permanent neurological sequelae, a quarter were low birth weight babies, and 10 had serious congenital defects. Twenty-three had been previously admitted to hospital with failure to thrive and the overlap with physical neglect was considerable. Mortality and morbidity among their siblings was also high. Difficulties with the child were attributable to interaction with neurotic mothers.The risk of battering diminishes after a child''s second birthday. The establishment of specialized hospital teams to tackle the overall problem is suggested as a method of improving management. Prevention may lie in educating mothers in the basic physical and psychological requirements of children and overcoming their reluctance to avail themselves of medical care.     

Parents for children.

Parents for Children is a specialist adoption agency set up to find homes for children with special needs--that is, those with physical, mental, and emotional handicaps; older children; and sibling groups. Of the first 38 children placed, one child died and six placements broke down, although four children were later re-placed. Almost all the children referred to the agency had been in care for most of their lives. A full assessment of each child is necessary before placement, but in several cases the medical assessment in care had been inadequate. Many of the prospective parents themselves had serious medical conditions. The agency has proved that homes can be found for children in need, but there have been problems and parents require advice and support in the management of the children after placement.     

Osteosarcoma (Osteogenic sarcoma)

We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome.     

Limb‐body wall defect: Experience of a reference service of fetal medicine from Southern Brazil

Background: Limb‐body wall defect is a rare condition characterized by a combination of large and complex defects of the ventral thorax and abdominal wall with craniofacial and limb anomalies. Methods: The aim of this study was to describe the experience of our fetal medicine service, a reference from Southern Brazil, with prenatally diagnosed patients with a limb‐body wall defect in a 3 years period. Only patients who fulfilled the criteria suggested by Hunter et al. (2011) were included in the study. Clinical data and results of radiological and cytogenetic evaluation were collected from their medical records. Results: Our sample was composed of 8 patients. Many of their mothers were younger than 25 years (50%) and in their first pregnancy (62.5%). It is noteworthy that one patient was referred due to suspected anencephaly and another due to a twin pregnancy with an embryonic sac. Craniofacial defects were verified in three patients (37.5%), thoracic/abdominal abnormalities in 6 (75%) and limb defects in eight (100%). Congenital heart defects were observed in five patients (62.5%). One of them presented a previously undescribed complex heart defect. Conclusion: The results disclosed that complementary exams, such as MRI and echocardiography, are important to better define the observed defects. Some of them, such as congenital heart defects, may be more common than previously reported. This definition is essential for the proper management of the pregnancy and genetic counseling of the family. The birth of these children must be planned with caution and for the prognosis a long survival possibility, despite unlikely and rare, must be considered. Birth Defects Research (Part A) 100:739–749, 2014. © 2014 Wiley Periodicals, Inc.     

Quality of life in children after cardiac surgery for congenital heart disease

The aim of this study was to assess the quality of life children after cardiac surgery for congenital heart disease (CHD) and to compare these results with healthy children. To assess the quality of life children after surgery for CHD we performed a cross-sectional study of 114 patients who were patients at the Department of Paediatrics in Tuzla, between the ages of 2 and 18 years, of both sexes, and with one of their parents. We used the "PedsQL 4.0 Generic Core Scales", with both child self-report and parent proxy-reports. By self assessment, the PedsQL total scores for quality of life were statistically significantly different between children after cardiac surgery for ages 13 to 18 years and healthy children, while by parent report PedsQL total scores were statistically significantly different between children after cardiac surgery for ages 5 to 7 years and healthy children. By self assessment, children after cardiac surgery for ages from 5 to 7 and 13 to 18 years reported that they have a statistically significantly lower quality of life in the segment school functioning compared to the healthy children. By parental assessment, children after cardiac surgery for ages 2 to 4, 5 to 7 and 8 to 12 years have a statistically significantly lower quality of life in the segments of physical and psychosocial health, emotional, social and school functioning. The results of our study indicate that children after cardiac surgery for CHD by self and parent assessment have a lower quality of life than healthy children.     

Child Maltreatment Experience among Primary School Children: A Large Scale Survey in Selangor State,Malaysia

Official reports of child maltreatment in Malaysia have persistently increased throughout the last decade. However there is a lack of population surveys evaluating the actual burden of child maltreatment, its correlates and its consequences in the country. This cross sectional study employed 2 stage stratified cluster random sampling of public primary schools, to survey 3509 ten to twelve year old school children in Selangor state. It aimed to estimate the prevalence of parental physical and emotional maltreatment, parental neglect and teacher- inflicted physical maltreatment. It further aimed to examine the associations between child maltreatment and important socio-demographic factors; family functioning and symptoms of depression among children. Logistic regression on weighted samples was used to extend results to a population level. Three quarters of 10–12 year olds reported at least one form of maltreatment, with parental physical maltreatment being most common. Males had higher odds of maltreatment in general except for emotional maltreatment. Ethnicity and parental conflict were key factors associated with maltreatment. The study contributes important evidence towards improving public health interventions for child maltreatment prevention in the country.     

Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited

We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome.     

Cranial computertomography in children with acute lymphatic leukemia (ALL) and non Hodgkin-lymphoma (NHL) after different methods of CNS-treatment

42 children with acute lymphatic leukemia (ALL) or non-Hodgkin lymphoma (NHL) were subjected to cranial computer tomography (CT). 4 groups were formed according to CNS therapy. Group 1: 18 children in complete first remission after CNS prophylaxis with intrathecal 198 Au-colloid and methotrexate were examined between 3 1/2 and 7 1/3 years after beginning of therapy. 15 patients had normal computer tomograms, only 3 children had slight anomalies. The quantitative assessment of the computer tomograms yielded normal results for all 18 children. Group 2: 8 children were examined before CNS prophylaxis. 1 child had a connatal septum pellucidum cyst, 4 children had no anomalies and 3 children slight anomalies. The deviations from normal in groups 1 and 2 should be physiological variations. Group 3: 6 children were examined between 10 months and 8 1/4 years after termination of prophylactic CNS-irradiation (18-22.5 Gy) in combination with intrathecal methotrexate. Normal findings were obtained for 2 patients only. The other children had distinct cortical, subcortical or cerebellar atrophies and calcification of stem ganglia. Neurological complications had temporarily appeared in one child after skull irradiation. Group 4: A CT was made of 10 children during or after meningosis leukemia. The children who had received 198 Au-colloid for CNS prophylaxis yielded no pathological CT results. Distinct cortical, subcortical and cerebellar atrophies or calcification of stem ganglia were found in children after one or two CNS irradiations. These CT investigations confirm the results published by other authors, i.e. that owing to an irradiation--cytostatic therapy of the children's brains CNS lesions can be found in the CT. Their prognosis can only be determined by longterm observations. CNS prophylaxis by means of intrathecal 198 Au-colloid and methotrexate does not lead to any pathological CT anomalies.     

PARENT-CHILD RELATIONSHIPS

Parents and doctors have an obligation to supply children with an emotional diet leading to their eventual maturity. This is as important to the child as is his physical guidance. The proteins, carbohydrates, fats, minerals and vitamins of a child''s emotional diet are: (1) the need for security; (2) the need to achieve social adaptability; (3) the need for success; and (4) the need for independence. In helping parents provide their children with these major guideposts along the road of character development toward maturity, physicians have a challenge and opportunity for real service to the humanities—a field of endeavor far behind science in human progress.     

Childhood Psychosis or Mental Retardation: A Diagnostic Dilemma: II. Pediatric and Neurological Aspects

A pediatric and neurological study of 62 retarded psychotic children revealed more family psychopathology, complications of pregnancy, and serious postnatal illness than in a control group. Motor development and speech development were slow in psychotic children, but obstetrical complications at the time of birth were not significantly more frequent than in controls. Abnormal physical findings in psychotic children were mainly congenital anomalies. Neurological deficits included mental retardation, speech defects, strabismus, and other non-localizing signs. EEG tracings were abnormal in 27 of 51 psychotic patients. At least 46 of the 62 psychotic children studied had evidence of organic brain disease.Although an inadequate family background may be associated with the development of psychosis, a severe disturbance of temporal and frontal lobe function may produce psychotic symptoms with or without familial predisposition.     

Habilitation of Patients with Congenital Malformations Associated with Thalidomide: Pediatric Aspects

Since November 1961 it became apparent that the administration of thalidomide to pregnant women was associated with the occurrence of severe congenital anomalies. These deformities are frequently symmetrical, involving the limbs, particularly the proximal part, and associated with an absent external ear, mid-line facial hemangioma with saddle nose, atresia of the bowel and other congenital anomalies. Care of these children is a complicated problem requiring a team of specialists of many disciplines, particularly a pediatrician, an orthopedic surgeon, a prosthetic specialist and a social worker. Treatment by such a team ideally would commence immediately after delivery of the infant and continue until the child has been totally habilitated. Such care ideally should be provided within existing services in the country for the habilitation and rehabilitation of handicapped children.     

Congenital Anomalies and Congenital Adrenal Hyperplasia

Among 74 patients with congenital adrenal hyperplasia observed at Childrens Hospital, Los Angeles, in a 25-year period, 36 had the simple virilizing type and 38 the salt-losing type. During the same time, seven children with virilizing adrenal tumors were observed at the hospital.While virilization and dehydration were the most common presenting symptoms, some of the children first came to medical attention because of other symptoms, and 11 of them died before adrenal hyperplasia had been diagnosed. Twenty-eight additional congenital cardiovascular, genitourinary, and gastrointestinal anomalies were found in 16 of these 74 children.With proper management, the patients tolerated such stresses as surgical operation and infections without difficulty.     

Effects of living with and looking after survivors of a stroke.

Information from a two year, longitudinal study on a community sample of patients with acute stroke was analysed to determine the effects of the stroke on the mood of the chief carer (the person living with the patient). Increased anxiety was the most commonly reported change six months after stroke. Significant depression was seen in 11-13% of carers over the first two years after stroke. The patient''s functional disability was associated with depression in the carer over the first year but not at two years. A perceived poor recovery by the patient, a low level of general activities by the patient, and depression in the patient were also associated with depression in the carer within the first year. At two years after stroke none of the measured factors were related to a carer''s level of depression. Carers of patients who have suffered stroke showed anxiety and emotional distress unrelated to the patient''s physical disability after two years. More help from stroke support groups for carers is perhaps needed.     

The Practitioner and School Age Child Problems

The extraordinary plasticity of the growing child offers the general practitioner an unusual opportunity to intervene either in a preventative or therapeutic manner. Such intervention, properly the task of any informed physician dealing with families, can alter unhealthy growth to healthier development. The whole child is just as important as his medical illnesses; the whole family usually needs help when there is an emotional disturbance in any child.Common problems that lend themselves readily to physician intervention are behavior disorders accompanying a neurological deficit, conduct disorders, enuresis and school phobias. Knowing how to elicit information, to evaluate clinical data and to utilize the findings of a skilled psychologist, and when to refer to a psychiatrist, plus a thorough knowledge of community resources are part and parcel of a physician''s equipment for dealing with children and families.     

EMOTIONAL FACTORS IN PHYSICALLY HANDICAPPED CHILDREN

The staff of the Reiss-Davis Clinic for Child Guidance has been concerned with the emotional factors in physically handicapped or chronically ill children. It is felt by the staff that work with these children must include not only the known procedures to improve or correct their physical condition, but also efforts directed toward preventing or removing any evidence of emotional or psychological crippling.The symbolic or unconscious meaning of the disability is of great importance in this work. Attitudes of the parents may seriously interfere with the handicapped child''s ability to develop his maximum level of functioning and adjustment. Individual and group psychotherapy was found of value in helping these parents.     

Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol

Maternal treatment with diethylstilbestrol (DES) during pregnancy can produce vaginal adenocarcinoma and other abnormalities of the vagina in her daughters when they reach adolescence or adulthood, miscarriages and absence of full term infants. Concerning malformations in newborns whose mothers were treated with DES, clitoromegaly and malformations of the uterus were reported in females and genital lesions in males. However, the frequencies of major congenital anomalies were not greater than expected. We report three cases of limb reduction defects (LRD) in the first generation of children whose mothers were treated with DES during pregnancy, and two children (one male, one female) with deafness in the second generation after intrauterine exposure to DES. The LRD were not associated with other congenital anomalies. The malformed children with LRD were born between 1965 and 1973. The deafness was also isolated. The two mothers who have no hearing problems and who are healthy were exposed in utero to DES in 1963 and 1965, respectively. Their children were born in 1989 and 1994, respectively. In conclusion, the association of LRD and hearing loss with intrauterine exposure to DES could be coincidental. However, some hypothesis may explain these associations. Congenital hearing loss in the second generation may suggest a transgenerational effect.