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1.
ObjectivesThe aim of this article is to identify patterns of family vulnerabilities among adolescents who have been bullied.MethodologyIn order to explore family vulnerabilities in 28 bullied teenagers, the family drawing assessment (Corman, 1970) has been chosen. The analysis of these drawings was developed from the grid of Corman (1970, revised by Jourdan-Ionescu and Lachance (2000) in a psychoanalytical frame of reference.ResultThanks to the data, two points have been highlighted: firstly, the representation of the self in the family which has been divided in two axes: the level of representation of the human figure, the self representation, and the place of the adolescent in his/her family (to draw oneself in his/her own family). Secondly, the non-compliance with the initial instruction (“draw your family and draw a family”).DiscussionThe analysis of the drawings of the family of adolescents who have been victims of bullying, has enabled us to observe difficulties in self-representation and in family relationships. Moreover, these adolescents seem to have difficulty thinking outside the family, to treat loss and separation anxieties, which would hinder the dual movement of autonomy and integration into a peer group.ConclusionThese intra-familial vulnerabilities seem to be, in part, the cause of difficulties for the adolescent, to integrate the social sphere.  相似文献   

2.
《Brain & development》2019,41(10):883-887
BackgroundARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity.MethodsWe studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknown genetic etiology of the youngest brother by whole exome sequencing.ResultsThe youngest brother of this family presented with developmental regression, dystonia, epilepsy, microcephaly, visual impairment and oromotor dysfunction. Hyperlactataemia, raised alanine and muscle complex IV deficiency indicated that he had mitochondrial dysfunction. Likely pathogenic hemizygous missense ARX variants (c.989G > A; p.Arg330His) located in conserved nuclear localization sequence was identified. The variant was carried by his asymptomatic mother and not found in his asymptomatic third elder brother. The intractable seizures showed complete but transient responsiveness to pyridoxal phosphate and finally controlled by valproate treatment.ConclusionThis is the first case of ARX-associated encephalopathy showing mitochondrial dysfunction and transient responsiveness to pyridoxal phosphate treatment.  相似文献   

3.
Abstract

The author chronicles his struggle with violent behavior which stemmed from an abusive family life, both as a child in his parent's home and as a young man. Coupled with delusions brought on by mental illness, the author's violent tendencies led him to murder his own mother. This act led him into the criminal justice system and eventually to psychiatric therapy at a Midwestern state psychiatric facility. The author describes his growing ability to rein in his violent tendencies, and his gratitude to the mental health system for their support and guidance.  相似文献   

4.
AimsThis article describes the clinical treatment of a schizophrenic patient presenting a delusion of filiation, connected to the era of the Second World War, with auditory hallucinations in English (his maternal language being French): that is to say a very uncommon phenomenon. We hypothesized a “genealogical haunting” (as theorized by Maria Torok and Nicolas Abraham).MethodA schizophrenic patient was hospitalized with a case of delusion and a very strong pathological reluctance. He told us progressively about a very rich delusion of filiation whose particularity was the appearance of auditory hallucinations in English, during the first breakdown. We tried to analyze this phenomenon as a genealogical haunting, and to define its origin, while the patient himself was concerned with the link between his origins and his schizophrenic illness. While his delusion persisted, he called upon his interest in genealogy and processes of figuration (metaphoric and objects-messengers, dreams, mythology).ResultsAs clinical interviews familiarized us with the patient's family history, we were able to better understand his hallucinations in English, thanks to the reconstruction of the familial past, and the search for the nucleus of the delusion, thus improving introjection and the symbolization of a traumatic past. This was associated with a lasting improvement in the patient's symptoms, increased psychic freedom, and the opening up of new possibilities in his life.DiscussionLocating the origin of a crypt in a past generation is obviously a delicate task, especially when the crypt appears in the words of a patient suffering from profound delusion. Nevertheless, the proposition of psychotherapy to a patient whose delusions concern a family secret (to what extent the patient's beliefs are truly delusional is difficult to determine, in the absence of hard evidence about his family history) can allow for the elaboration and the symbolization that are necessary in calming – or, in the best case – minimizing the delusion.ConclusionThe transgenerational approach to the effects of genealogical haunting can enlarge our knowledge about the most enigmatic pathological productions, in this case, auditory hallucinations in English in a French-speaking patient. Incorporating this transgenerational approach into psychoanalytic psychotherapy could prove therapeutic, including for certain schizophrenic patients.  相似文献   

5.
ObjectiveDJ1 mutations (PARK7) are among the monogenic causes of early-onset autosomal recessive parkinsonism. Here, we report clinical and genetic findings in a family with Turkish origin carrying a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and signs of amyotrophic lateral sclerosis (ALS).MethodsThe family consisted of 12 members including 10 offsprings of whom three were affected. All family members underwent detailed clinical examination. DNA samples from the index case, his unaffected sister, and his parents were subjected to whole genome sequencing analysis.ResultsThe index case 38-year-old man developed left hand tremor at the age of 24 years. He had progressive asymmetrical parkinsonism, depression and developed signs of ALS within 4 years. His two affected sisters had young-onset asymmetrical tremor-dominant parkinsonism with signs of ALS. A new homozygous p.Q45X mutation in exon 3 in DJ1 was found in all three patients. Their unaffected parents and one clinically healthy sibling were found to be heterozygous for this mutation.ConclusionsThis is the second report of DJ1 mutations associated with parkinsonism and ALS. This is relevant for genetic counseling as well as for understanding the pathogenesis of the broad spectrum of parkinsonism-ALS disease complex.  相似文献   

6.
BackgroundMutations in the F-box protein 7 (FBXO7) gene is one of the genetic causes of early-onset Parkinson's disease, which usually presents as autosomal recessive early-onset parkinsonian-pyramidal syndrome (PPS). Herein, we report a Chinese PPS family with a novel FBXO7 homozygous mutation.MethodsClinical data of the proband and his affected sister manifesting as early-onset parkinsonism combined with pyramidal signs were collected. DNAs of the two affected siblings, an unaffected sibling and their unaffected mother were isolated. Whole-exome sequencing (WES) was performed for the proband. After bioinformatic analysis, targeted variants were validated by Sanger sequencing in the family members available for DNAs.ResultsThe proband began to walk unsteadily at 30-year-old and developed mild parkinsonism and stiffness in both lower extremities 4 years later. His older sister also manifested as early-onset parkinsonism with stiffness in both lower limbs and postural instability. Both the proband and his older sister carried a novel homozygous FBXO7 mutation in exon 7 (c.1034G > C, p. R345P). The homozygous mutation co-segregated with disease in this pedigree. The mutation located at a highly conserved amino acid residue in the F-box domain, which was predicted to be damaging in silico.ConclusionsOur study expands the mutational spectrum of autosomal recessive early-onset Parkinson's disease (PARK15) caused by FBXO7 mutations.  相似文献   

7.
ObjectivesThis research focuses on the psychological repercussions of a teenager's “trans-identity” with his father. Its objective is to explore the experiences of this father, particularly in terms of parenting and male identity.Patients or materials and methodFaced with the limited research devoted to this theme, in contrast to studies focusing on transidentity, we have developed a methodology composed of a semi-structured interview and a projective test, the TAT.ResultsFollowing the meeting with Michel, the clinical results highlight a degraded father/son relationship, the sphere of the affective dimension seems to be the most disturbed since a significant depressive movement is detected in our participant. These results suggest that a father's exposure to his son's “trans-identity” can cause disturbances at both conscious and unconscious levels, affecting both his parenting and his personal experience.ConclusionThis study contributes to the updating of knowledge in the transgender field. In particular, it paves the way for future research. The results have shown the usefulness of continuing research in this area to improve support for parents of transgender adolescents or young adults and thus help transgender people themselves in their transition. Indeed, the studies have stressed that family involvement and support in the transition of a transgender subject is essential for his or her well-being and facilitates his or her transition. It therefore seems essential to continue studies in this field so that they contribute to improving the care and psychological support of transgender people.  相似文献   

8.
IntroductionThe psychological treatment of young patients affected by constitutional bone diseases and of their families has prompted us to look into the function and scope of psychological supervision of these children. Reaching further than the accompaniment needed for their treatment, analytical orientation work has a bearing on the capability of the subject and his or her parents to cope with some manifestations of pain in the body.ObjectiveAccording to our hypothesis, Freud's placing in perspective pain and impulse sheds light on the direction treatment should take. In this context, family discussions raise questions about the separation of the body — from the suffering body of the child.MethodThe clinical work that Mathilde, aged 5, suffering from hypochondroplasia with retarded growth, and her parents, will be undertaking will provide an opportunity to go over the process of the announced diagnostic. Blaise, an adolescent suffering from exostosis, wonders about the unknown aspects of particularly acute pain, combined with the inability to walk and the associated anxiety-depressive disorder signs, which the presence of the exostoses alone does not explain from the somatic point of view.ResultsThis path will lead to the circumscribing of the anguish felt by Mathilde and her parents, like the anguish triggered by loss (death or abandonment…), and tackle the process of getting to grips with the pain both from the somatic and mental standpoints. The individual conversations with Blaise will lead to questions being raised, about his future, the hereditary transmission of the disease, as well as the counter-indication of his father, the only family member to be untouched by it.DiscussionIn the case of chronic affections, if the clinical interrogation with regard to pain is axed around the crossroad of the disease, the deficiency and the handicap, certain situations of excessive handicap could possibly be avoided.  相似文献   

9.
Purpose

Schizophrenia places a heavy burden on the individual with the disorder, as well as on his or her family; this burden continues over the long course of the disease. This study aimed to provide an overview of the positive and negative impacts of schizophrenia on family caregivers.

Methods

From April to June 2017, two investigators conducted a systematic review and meta-summary of studies obtained from five electronic databases and the footnotes and citations of eligible studies. Qualitative studies that explored the experiences of family caregivers of individuals with schizophrenia were included. Study findings published between 1993 and 2017 were extracted and synthesised using narrative and summative approaches.

Results

After the removal of duplicates, independent reviewers screened 864 records. Subsequently, 46 full-text articles were assessed for eligibility and 23 papers were included in the synthesis. Negative impacts identified were traumatic experiences, loss of expectation of life and health, lack of personal and social resources, uncertainty and unpredictability, family disruption, conflict in interpersonal relationships, difficulty in understanding, and stigma and heredity. Meanwhile, the positive impacts identified were family solidarity, admiration, affirmation, affection, compassion, learning knowledge and skills, self-confidence, personal growth, and appreciation.

Conclusions

Analysis of the studies suggested that family members of individuals with schizophrenia face a series of traumatic situations during the course of the illness. Their subsequent experiences can be conceptualised as a continuous circle of caregiving, in which the positive impacts can be centrally positioned within the negative impacts.

  相似文献   

10.
Abstract

Male genital self-mutilation has been known to occur in psychotic patients. We report a case of premeditated autocastration in the absence of clinical disorder, both at the time of the mutilation and upon follow-up. Coming from a strict Slavic family, this patient repressed gender identity issues for decades. After migrating to Western Europe, his sexual ambiguity became actuated. His motives can be understood in the light of his personal and cultural background. This case shows that cultural factors may contribute to explaining male genital self-mutilation behaviors.  相似文献   

11.
ABSTRACT

This article provides a detailed outline of the recovery of a young male patient during his emergence from a vegetative state (VS) 19 months after suffering a severe traumatic brain injury. Several similar cases have been documented, but these tend not to consider the subjective experience of the patient or family; our aim was therefore to provide a detailed account that emphasises our neuropsychological exploration of the impact of the injury on this person, and looks at the experience of his mother along the timeline from his accident to the end of a successful period in rehabilitation. Clinical details are presented including standardised and non-standard assessments, neuropsychological interventions, as well as reflections from the patient himself. Moreover, qualitative data from an interview with his mother is used to illustrate the emotional impact on family of such a vacillating diagnostic status and prognosis for the future. We conclude that late-emergence from VS is increasingly documented and further cases must be published to better understand this phenomenon. The present case illustrates the emotional impact this situation can have on a patient and his or her family, and gives an important insight into a patient’s view of his or her life and identity following such an event.  相似文献   

12.
ObjectiveThe earthquake of January 12, 2010 in Haiti has paved the way for the emergence of a series of previous traumas buried in the Haitian collective national psyche, that of institutions, families and of particular individuals. The aim of this paper is to show that these various levels of trauma are related and fit together in forms that express the suffering that an individual may show.MethodBased on the case report of a preteen seen in an emergency, the study was conducted using a methodology adapted to the post-disaster context of the meeting. The meeting was divided into four phases: one with all the family, one with the preteen, one with the parents, and the last one with all the family so as to reestablish the elements of their understanding. A Rorschach was also administered to the young.ResultsThe study shows how a request clearly linked to the earthquake was a way to express what we propose to call “internal world earthquakes” within the individual and family psychic apparatus. The study also highlights the transmission of the traumatic legacy in a family, in a country, and the strategies used by the preteen to find his/her place in the family psyche and the failure of individual and group envelopes.DiscussionThe discussion focused on the fact that natural earthquake responsive to other forms of earthquakes buried within the “internal world” of the individual him/herself and of the family, highlighting the collapse of previous threats. Earthquakes in the internal world cannot be located in time and space. They turn into psychic events driven by external events in family and national scenes. They articulate chronological time and psychological time in collective and individual psyches.ConclusionHence, it is necessary to consider not only the possible therapeutic consequences of this emergency meeting but also to put into perspective a para-seismic model of the Haitian collective psyche able to anticipate threats of collapse in the long term.  相似文献   

13.
Summary

This article presents the major conceptual and clinical ideas on fathering, religion, and counseling developed by David C. Dollahite and his colleagues. The concepts of generative fathering and generative narrative therapy are presented and illustrated with narratives of religious fathers. These ideas address a number of issues believed important to consider in family therapy with fathers-particularly religious fathers. Concepts are illustrated with personal narratives from two samples of Latter-day Saint (Mormon) fathers of children with special needs. Although the narratives are non-clinical, implications for family therapy from these and related theories and stories are suggested. The article emphasizes father strengths, the power of religion to assist fathers in challenging circumstances, and the importance of therapists' sensitivity to spiritual and religious matters.  相似文献   

14.
《Brain & development》2023,45(4):205-211
BackgroundHyperkalemic periodic paralysis (HyperPP) is an autosomal dominantly inherited disease characterized by episodic paralytic attacks with hyperkalemia, and is caused by mutations of the SCN4A gene encoding the skeletal muscle type voltage-gated sodium channel Nav1.4. The pathological mechanism of HyperPP was suggested to be associated with gain-of-function changes for Nav1.4 gating, some of which are defects of slow inactivation.Case presentation & MethodsWe identified a HyperPP family consisting of the proband and his mother, who showed a novel heterozygous SCN4A variant, p.V792G, in an inner pore lesion of segment 6 in Domain II of Nav1.4. Clinical and neurophysiological evaluations were conducted for the proband and his mother. We explored the pathogenesis of the variant by whole-cell patch clamp technique using HEK293T cells expressing the mutant Nav1.4 channel.ResultsFunctional analysis of Nav1.4 with the V792G mutation revealed a hyperpolarized shift of voltage-dependent activation and fast inactivation. Moreover, steady-state slow inactivation in V792G was impaired with larger residual currents in comparison with wild-type Nav1.4.ConclusionV792G in SCN4A is a pathogenic variant associated with the HyperPP phenotype and the inner pore lesion of Nav1.4 plays a crucial role in slow inactivation.  相似文献   

15.
Abstract

In his article on aphasia and family therapy, Wahrborg does not say or offer anything new on problems faced by relatives and carers. Indeed, there is nothing exceptional in the overall philosophy of the paper and, on first reading, one's reaction is that any therapist carrying out effective treatment will already be putting into action many of Währborg's suggestions.  相似文献   

16.
Abstract

Tourette's Syndrome (TS) is regarded as a lifelong spectrum syndrome which is found world wide, across all geographical, ethnic and cultural barriers. This neuropsychiatric disorder that is in all likelihood genetically determined, is associated with neurotransmitter (“chemical”) imbalance, causing motor and vocal tics, as well as associated problems, affecting the person in his complete ecosystem, namely his family, school and society.

The primary aim of this study was to determine whether the self-concept of the adolescent TS-sufferer differed significantly from the self-concept of the adolescent who does not suffer from TS.

Significant differences were found between the adolescent who suffers from TS and the adolescent who does not suffer from TS, regarding his non-academic self-concept, academic self-concept and global self-concept.

The study has highlighted significant self-concept differences, which may have implications for the adolescent TS-sufferer in his whole ecosystem.  相似文献   

17.
Abstract

In the previous article ‘The self-concept of the adolescent suffering from Tourette's Syndrome’ an exposition was given of Tourette's Syndrome (TS). The research problem, aim and method, as well as results of the study were discussed. There was evidence of significant differences between adolescents suffering from TS and those not suffering from TS, regarding their non-academic, academic and global self-concepts.

TS may have implications for the adolescent sufferer himself/herself (intrapersonal) and for others (interpersonal) in his/her environment. For these reasons the individual sufferer, his/her family, the school and society are constantly and increasingly confronted with the responsibility of helping the sufferer to develop a positive, realistic self-concept. They need to exert a strong influence on the optimal actualization of his/her potential.

In this article recommendations are made to promote the TS-sufferer's forming of a positive self-concept and to help him/her to take up his/her position in life in the best possible way. Attention is given to the psychological management of the TS-sufferer, with reference also to certain strategies from which he/she may benefit. In addition, the value of family therapy and a support group is highlighted. Finally guidelines are offered to help the sufferer in the school situation, while the responsibility of society regarding the TS-sufferer is also emphasised.  相似文献   

18.
ObjectiveFBXO7 mutations (PARK 15), first reported in 2008, are among the monogenic causes of early-onset parkinsonism. Classically, PARK 15 was suggested to correspond to previously described pallido-pyramidal syndrome. Here, we report clinical and genetic findings in a unique family of Kurdish origin with an FBXO7 mutation and presenting with diverse clinical phenotypes.MethodsThe family consisted of 14 members (12 offspring) of whom three were affected. Two of these three siblings were examined in our clinic. DNA samples from the index case and his elder sister were subjected to homozygosity mapping and exomic sequencing.ResultsThe index case had progressive speech problems, severe apathy, chorea, and tics at presentation and developed very mild parkinsonism and postural instability after 3 years. His sister had young-onset asymmetric tremor-dominant parkinsonism with some atypical features, such as early development of postural instability, tics, and tachyphemic speech. She died of an akinetic-rigid condition and had not developed chorea. A homozygous R498X mutation was found in both patients (NM_012179; chr22:31,224,440). This result was further confirmed by Sanger sequencing in both patients, their consanguineous parents, and their maternal grandfather; the latter three were found to be heterozygous for the mutation (c.C1492T; p.R498X).ConclusionsThe family presented here broadens the clinical spectrum of parkinsonism to include tics and chorea, in addition to the parkinsonian-pyramidal phenotype, in connection with FBXO7 mutations and points to an intrafamilial phenotypic variation.  相似文献   

19.
ObjectivesThe recovery paradigm has emerged in mental health over the last thirty years, referring to the subjective and dynamic process by which a person achieves a satisfying life, relying on his/her strengths, his/her values, and the very experience of his/her psychiatric illness. The understanding of the experience of people living with schizophrenia and engaged in a path of recovery is undermined by an objective and categorical psychiatric approach, targeting symptoms and deficits to be compensated. We propose a phenomenological approach to a clinical situation of positive withdrawal, as developed by Corin and Lauzon, as a form of recovery for the schizophrenic subject, in order to shed light on the first-person experience of what psychiatric semiology refers to as negative symptoms, apragmatism and social withdrawal.MethodWe develop the single case of Sam, 39 years old man who has been treated for schizophrenia for about 10 years. He talks about his “spiritual schizophrenia”, which has in the past generated a demon above his head guiding his aggressive behaviors. Since he was discharged from hospital three years ago, Sam has become an “ordinary person” again, according to him. His daily routine is ritualized by a weekly activity at the day hospital, daily nursing visits at home, television, and visits from two friends on weekends. He explains that he needs peace and quiet around him and like to be aware of his neighbourhood and village lives and events. He listens to his spiritual guides and his gift of clairvoyance, which predicted him, more happiness from his forties onwards by getting a job and by a love encounter. We propose a phenomenological analysis of his experience of recovery and positive withdrawal.ResultsSam's embodied experience was previously characterized by a confusion between the intentional and sensitive flesh (Leib) and the objectified body (Körper), disembodied and materialized as if on the outside by a demon on top of his head. Today, it seems to be re-articulated in a dialectic harmony between Leib and Körper. Sam inhabits his body in an embodied life, as an interface between himself, his history and the world. His relationship to space is characterized by the paradox of an opening to the shared world by keeping a distance from others. Sam gets punctually and cyclically involved in selected spaces that do not require any intimate social commitment, and stays on the lookout, from his home, for events in his neighborhood, his village, and world news. The Others participate in his distant integration into the community: his link with the mayor of the village validates his identity as a fully-fledged citizen, his family regularly invoked in his self-narrative is kept at a distance by monthly digital contacts, the neighbor's daily life must not be disturbed under penalty of divine punishment, etc. Sam claims a necessity of calm both inside and outside, as a support for a controlled intersubjectivity allowing the reconstruction of the self. Finally, the patient's temporality is structured by patience. À slow-now allows him to synchronize private and public paces. His esoteric beliefs give meaning to the cyclical repetition of events; his spiritual guides direct his life trajectory, promising him professional and relational dynamism from the age of forty.ConclusionÀ phenomenological approach as close as possible to the subjective experience of the person living with schizophrenia has made it possible to break loose from the social withdrawal symptom pointed out by psychiatric semiology. Positive withdrawal, as an active positioning of the subject both inside and outside the society, illustrates a process of recovery from the illness. By supporting an identity reconstruction through a dialectical tension between proximity and distance with the Other and the world, positive withdrawal reveals the importance of considering the paradoxical shape of recovery processes. It invites clinicians to free oneself from normative interventions motivated by a restrictive psychiatric empiricism.  相似文献   

20.
ObjectivesThe literature often indicates the reluctance of family caregivers to seek help, when confronted to the dependence of a close family member but the psychological reasons remain badly known. This research makes the hypothesis that the sense of guilt represents one of the main obstacle to the search of help from the family caregiver of a close family member affected by dementia, when the patient lives at home. It aims to differentiate the guilt of the family caregiver, according to its place of spouse or descendant, in the relation of caregiving. But it also aims to clarify the foundations and the mechanisms of family caregivers’ guilt, by articulating it with the problem of loss, which is at the heart of dementia diseases. The work of the pre-mourning and the theory of attachment proposes then to shed a new light, on the elaboration of losses and the sense of guilt of the family caregiver, in the psychic and relational space.Materials and methodsThis research proposes to put in perspective the data collected on the sense of guilt of the family caregiver, through a qualitative and quantitative approach. To test these hypotheses, 38 semi-directive interviews were realized, and completed by the scales of attachment (RSQ), of caregiving (CRA) and depression (Beck). The interviews were the object of a study of thematic analysis based on a psychoanalytical approach. The statistical significance of results was determined thanks to Fisher's Exact test and Chi-Square test.ResultsThe results show that depressed family caregivers feel more guilty than not depressed. But guilt cannot be reduced to a disorder of mood. Indeed the descendants feel more guilty than the spouses while they are also depressed as them. The results show a link between the type of attachment of the descendants and their guilt. The descendants-secure feel less guilty than the descendants-insecure. Secure attachment could embody a protective factor against the guilt, even if the statistical results must be handled with caution considering the small sample size.ConclusionsIf guilt slows down the request of help from the spouses, it motivates that of the descendants. Guilt is not the only obstacle to the request of help of the family caregiver. Other factors such as the sense of shame, powerlessness, loyalty… can prevent his request of help. Also the psycho-behavorial disorders of the patient, which are more pronounced in some dementias can also affect the request of help of the family caregiver (English text read by François Petitjean).  相似文献   

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