Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

A mother and son are reported with bilateral, symmetrical syndactyly of the third, fourth, and fifth toes, mild craniosynostosis of the coronary sutures, and small pinnae. The same combination of malformations was recently described as a new syndrome by Kurczynsky and Casperson in a mother and her daughter. In addition, in the present family, the mother had fusion of two cervical vertebrae and a partial duplication of the first metatarsal. The child had a bilateral cleft lip and palate. The question is raised whether these patients represent a new syndrome or a variant of the Saethre-Chotzen syndrome.     

BBBG syndrome or Opitz syndrome: new family

We report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome. We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of the two syndromes. Therefore, we suggest that they should be considered variable expression of the same gene. The name BBBG syndrome is proposed for the amalgamated syndrome.     

Attitudes regarding chronic fatigue syndrome: the importance of a name

Undergraduates from diverse academic backgrounds and medical trainees were assessed regarding their attitudes about and familiarity with chronic fatigue syndrome (CFS). We explored whether different names given to chronic fatigue syndrome (CFS, myalgic encephalopathy, or Florence Nightingale disease) were associated with differences in attributions regarding its cause, nature, severity, contagion, prognosis, and treatment. Participants' attributions toward the illness varied with the names used to characterize it. Participants prompted with the myalgic encephalopathy name were more likely to attribute a biomedical cause to the illness, and less likely to consider patients as candidates for organ donation than those prompted with the CFS name. Although the medical trainees were less likely to consider the patient as malingering, and more likely to view the illness as leading to poorer quality of life and a poorer prognosis, they were also more likely to consider the illness a form of primary depression, more likely to think the patient would attempt suicide, and less likely to consider associated cognitive symptoms as severe. The implications are discussed.     

Psychological crisis intervention for the family members of patients in a vegetative state

OBJECTIVES:

Family members of patients in a vegetative state have relatively high rates of anxiety and distress. It is important to recognize the problems faced by this population and apply psychological interventions to help them. This exploratory study describes the psychological stress experienced by family members of patients in a vegetative state. We discuss the effectiveness of a psychological crisis intervention directed at this population and offer suggestions for future clinical work.

METHODS:

A total of 107 family members of patients in a vegetative state were included in the study. The intervention included four steps: acquisition of facts about each family, sharing their first thoughts concerning the event, assessment of their emotional reactions and developing their coping abilities. The Symptom Check List-90 was used to evaluate the psychological distress of the participants at baseline and one month after the psychological intervention. Differences between the Symptom Check List-90 scores at the baseline and follow-up evaluations were analyzed.

RESULTS:

All participants in the study had significantly higher Symptom Check List-90 factor scores than the national norms at baseline. There were no significant differences between the intervention group and the control group at baseline. Most of the Symptom Check List-90 factor scores at the one-month follow-up evaluation were significantly lower than those at baseline for both groups; however, the intervention group improved significantly more than the control group on most subscales, including somatization, obsessive-compulsive behavior, depression, and anxiety.

CONCLUSION:

The results of this study indicate that the four-step intervention method effectively improves the mental health of the family members who received this treatment and lessens the psychological symptoms of somatization, obsessive-compulsive behavior, depression and anxiety.     

Covert cognition in the persistent vegetative state

Brain damage can sometimes render a patient persistently unresponsive and yet apparently awake, admitting the possibility that the absence of overt voluntary behaviour might conceal a retained capacity for covert cognition. When given instructions to perform a cognitive task, a minority of patients in such a so-called persistent vegetative state (PVS) has recently been found to exhibit patterns of brain activation closely matching those observed in normal subjects obeying the same instructions. These data have been widely interpreted as implying the detection of covert “consciousness”. Here we show that this inference is not supported by the extant data because it relies on critical assumptions, obscured by conceptual unclarities, that are either untested or untestable. We set out the proper grounds for ascribing psychological attributes to PVS patients from physiological evidence of any kind, and offer a perspicuous conceptual framework for future empirical studies in the field.     

Legal and ethical aspects of the vegetative state

The diagnosis of persistent or permanent vegetative state (PVS) raises ethical and legal problems. Strict adherence to the doctrine of the sanctity of life would require carers to continue to maintain the individual, perhaps for many years. However, few would regard this as an appropriate outcome when the person clearly has no capacity to interact with the environment and has no likelihood of recovery. However, the ethical and legal commitment to the sanctity of life has led courts to employ a variety of approaches to this situation in order to find a way in which the person in PVS can be allowed to die. It is argued that each of the approaches is disingenuous and ultimately unhelpful. What the law is doing is endorsing non-voluntary euthanasia, but dressing it up as something else. This is unhelpful for all concerned and the time has come for a review of all end of life decisions so that doctors, patients, and relatives can make honest decisions without fear of legal reprisal.     

Choanal atresia and athelia: methimazole teratogenicity or a new syndrome?

An infant girl with choanal atresia, athelia, minor anomalies, and mild to moderate mental retardation was born to a woman treated for hyperthyroidism throughout pregnancy with methimazole and propranolol. The patient's defects may be due to methimazole teratogenicity or could represent a previously undescribed syndrome affecting ectodermal structures.     

Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association

Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. This family has been cited in several reports as an example of familial CHARGE syndrome. We do not think that the patients in this family have the Charge syndrome or association. Therefore, we decided to do a follow-up study on this family to assess the subsequent development of the patients and to determine if they have the CHARGE syndrome. We conclude that our patients do not have familial CHARGE syndrome.     

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

Each of three families of northern European origin contains a mentally retarded son with hemoglobin H (Hb H) disease. One parent is a carrier of mild alpha-thalassemia and the other is normal, suggesting that this form of Hb H disease results from the interaction between an inherited defect of alpha-chain production and one member of the pair in chromosome 16 and a new mutation on the other. Restriction-enzyme analysis indicated that the new mutation was not the same in the other three patients, and demonstrated at least two hitherto undescribed lesions involving the alpha-globin gene cluster. Unless the association between the Hb H disease and mental retardation is fortuitous, the new mutations may also be related to the development changes in these children. Since the mutations only came to light because there was concurrent inheritance of an additional alpha-thalassemia determinant, this type of mutation of chromosome 16 may have been overlooked in other mentally retarded patients.     

Apparent Apert syndrome with polydactyly: Rare pleiotropic manifestation or new syndrome?

Two patients are described with a syndrome which resembles Apert syndrome with polydactyly of hands and feet. This association is apparently rare and we think that this may represent a distinct syndrome separate from Apert syndrome.     

Trigonocephaly: a new familial syndrome

Trigonocephaly was found in six relatives through three generations of one family. The propositus was ascertained at birth because of omphalocele. In addition to trigonocephaly, he had minor ear, vertebral, and genital abnormalities. His father had mild microcephaly, and both had minor eye abnormalities. None of the other four affected individuals had any other malformations. In this family, trigonocephaly is an autosomal dominant trait. The ratio of affected males to affected females was 5 to 1, and although the paucity of affected females is not statistically significant, we speculate that it may reflect variable expressivity or sex limitation of the trait. We conclude that the condition in this family represents a unique syndrome in which trigonocephaly is not associated with functional brain abnormalities and where craniosynostosis is limited to the metopic region.