Attachment and Biobehavioral Catch-up (ABC) is an intervention targeted at enhancing the socioemotional and regulatory functioning of at-risk infants. However, to use the ABC for infants/toddlers with intellectual disabilities/developmental delays (ID/DD) and in novel cultural contexts, such as South Africa, adaptations may be required. This study aimed, therefore, to explore the opinions of clinical experts and perceptions of caregivers regarding the use of ABC for children with ID/DD in South Africa. It also sought to incorporate the experiences of families of children with ID/DD who received, and intervenors who delivered, ABC in its first implementation in South Africa. Semi-structured interviews were conducted with 18 participants. Thematic analysis explicated 12 main themes: Intervention Strengths, Points of Concern, and Recommendations (Experts); Focus on Caregiver-child Relationship, and Intervention Targets and Duration (Caregivers); Benefits of ABC, and Cultural Considerations (ABC Recipients); Focused and Targeted, Value of Feedback, Supportive Supervision, Working Alliance, and Challenges Experienced (ABC Intervenors). Practice and training recommendations include psychoeducation for parents and training for intervenors that is ID/DD-specific, expanding supervision capacity, building intervenors\' cultural/linguistic sensitivity and competence, accessing referral networks, including local Community Health Workers as intervenors, and greater flexibility in how the sessions are organized.
La intervención de Afectividad y Alcance del Bio-comportamiento (ABC) está dirigida a mejorar el funcionamiento socioemocional y regulatorio de los infantes bajo riesgo. Sin embargo, para usar el ABC para infantes y niños pequeñitos con discapacidades intelectuales / retrasos en el desarrollo (ID/DD) y dentro de nuevos contextos culturales, tal como en Sudáfrica, se requieren adaptaciones. Este estudio se propuso, por tanto, explorar las opiniones de expertos clínicos y las percepciones de quienes prestan el cuidado acerca del uso del ABC con niños con ID/DD en Sudáfrica. También buscaba incorporar las experiencias de familias de niños con ID/DD que recibían, así como de practicantes de la intervención que ofrecían el servicio de ABC durante su primera implementación en Sudáfrica. Se llevaron a cabo entrevistas semiestructuradas con 18 participantes. Análisis temáticos explicaron los 12 principales temas: Puntos Fuertes de la Intervención, Puntos que Preocupan y Recomendaciones (Expertos); Enfoque en la Relación Cuidador-Niño y Metas de Enfoque y Duración de la Intervención (Cuidadores); Beneficios del ABC y Consideraciones Culturales (Quienes recibían el ABC); Lo Enfocado y Diseñado como Meta, Valor de Ideas Recibidas, Supervisión con Apoyo, Alianza de Trabajo y Retos Experimentados (Practicantes de la Intervención ABC). Las recomendaciones de práctica y entrenamiento incluyen la psico-educación de padres, entrenamiento a quienes practican la intervención específicamente orientada a ID/DD, expandir la capacidad de supervisión, formar la sensibilidad y competencia cultural/lingüística de quienes practican la intervención, acceso a los sistemas de referencias, incluir Trabajadores de Salud Comunitarios como practicantes de la intervención y mayor flexibilidad en cómo organizar las sesiones.
L\'attachement et le rattrapage bio-comportemental (en anglais Attachment and Biobehavioral Catch-up, soit ABC) est une intervention ciblée sur l\'amélioration du fonctionnement socio-émotionnel et régulatoire de bébés à risques. Cependant, pour utiliser l\'ABC pour des bébés/jeunes enfants avec des retards intellectuels et des retards du comportement (ID/DD) et dans des contextes culturels nouveaux, comme l\'Afrique du Sud, des adaptations pourraient être nécessaires. Par conséquent cette étude s\'est donné pour but d\'explorer les opinions d\'experts cliniques et les perceptions des personnes prenant soin d\'un bébé quant à l\'utilisation de l\'ABC pour des enfants avec ID/DD en Afrique du Sud. On a aussi cherché à incorporer les expériences de familles d\'enfants avec ID/DD qui ont reçu l\'ABC, ainsi que des intervenants qui l\'ont facilité, dans sa première mise en oeuvre en Afrique du Sud. Des entretiens semi-structurés ont été faits avec 18 participants. Une analyse thématique a explicité 12 thèmes principaux: Forces de l\'Intervention, Points d\'Inquiétude, et Recommandations (Experts); Accent sur la Relation Personne prenant soin de l\'enfant-enfant et Cibles d\'Intervention et Durée d\'Intervention (Personnes prenant soin d\'un bébé); Bénéfices de l\'ABS, et Considérations Culturels (personnes ayant reçu l\'ABC); Ciblé et Centré, Valeur du Retour, Supervision de Soutien, Alliance entre entités, et Défis Vécus (Intervenants ABC). Les recommandations de pratique et de formation incluent une psychoéducation pour les parents, une formation pour les intervenants qui est spécifique à l\'ID/DD, l’élargissement de la capacité de supervision, le développement de la sensibilité et de la compétence culturelle/linguistique des intervenants, l\'accès aux réseau d\'orientation, y compris des Travailleurs de Santé Communautaires en tant qu\'intervenants, et une plus grande flexibilité dans la manière dont les sessions sont organisées.
Die Anpassung des Programms „Attachment and Biobehavioral Catch-up“ an Säuglinge und Kleinkinder mit geistigen Behinderungen und Entwicklungsverzögerungen in Südafrika: Überlegungen und Empfehlungen von lokalen Akteur:innen „Attachment and Biobehavioral Catch-up; ABC) ist eine Intervention, die darauf abzielt, die sozio-emotionalen und regulatorischen Funktionen von gefährdeten Säuglingen zu verbessern. Wenn der ABC bei Säuglingen/Kleinkindern mit geistigen Behinderungen/ Entwicklungsverzögerungen (disabilities/developmental delays; ID/DD) und in neuen kulturellen Kontexten - wie z. B. in Südafrika - angewendet wird, können jedoch Anpassungen erforderlich sein. Ziel dieser Studie war es daher, die Meinung von klinischen Expert:innen und die Wahrnehmung von Betreuungspersonen in Bezug auf die Anwendung des ABC für Kinder mit ID/DD in Südafrika zu untersuchen. Außerdem sollten die Erfahrungen von Familien mit Kindern mit ID/DD, die bei seiner Ersteinführung in Südafrika an ABC teilgenommen hatten, und diejenigen der durchführenden Interventions-Fachkräfte einbezogen werden. Mit 18 Teilnehmenden wurden halbstrukturierte Interviews geführt. Aus einer thematischen Analyse ergaben sich 12 Hauptthemen: Stärken der Intervention, Bedenken und Empfehlungen (Expert:innen); Fokus auf die Beziehung zwischen Betreuungsperson und Kind sowie Ziele und Dauer der Intervention (Betreuungspersonen); Vorteile des ABC und kulturelle Überlegungen (ABC-Teilnehmende); Fokussiert- und Zielgerichtetheit, Wert des Feedbacks, unterstützende Supervision, Arbeitsbündnis und erlebte Herausforderungen (ABC-Interventions-Fachkräfte). Zu den Empfehlungen für Praxis und Ausbildung gehören Psychoedukation für die Eltern und eine ID/DD-spezifische Ausbildung für die Interventions-Fachkräfte, eine Erweiterung der Supervisionskapazitäten, Förderung der kulturellen/sprachlichen Sensibilität und Kompetenz der Interventions-Fachkräfte, Zugang zu Überweisungsnetzwerken, Einbeziehung lokaler „Community Health“-Kräfte als Interventions-Fachkräfte und eine größere Flexibilität bei der Organisation der Sitzungen.
南アフリカにおける知的障がいおよび発達遅延のある乳幼児に対する愛着と生物行動学的キャッチアップの適応:現地の関係者の考察と提言 愛着と生物行動学的キャッチアップ (ABC) は、リスクのある乳幼児の社会情緒的・調節的機能を高めることを目的とした介入である。しかし、知的障がい・発達遅延 (ID/DD) のある乳幼児や南アフリカのような新しい文化的背景でABCを使用するためには、-適応させることが必要だろう。そこで本研究では、南アフリカのID/DD児に対するABCの使用について、臨床専門家の意見と養育者の認識を調査することを目的とした。また、南アフリカで初めてABCを実施したID/DDの子どもの家族と、ABCを実施した介入者の経験も取り入れることを目指した。18名の参加者に対して半構造化面接を実施した。主題分析により、12の主要なテーマが明らかにされた。介入の長所、懸念点、推奨事項 (専門家) 、養育者と子どもの関係性への焦点、介入目標と期間 (養育者) 、ABCの利点、文化的配慮 (ABC受益者) 、焦点と目標、フィードバックの価値、支持的スーパービジョン、作業同盟、経験された困難 (ABC介入者) 。実践と訓練に関する推奨事項には、親に対する心理教育、介入者に対するID/DDに特化した訓練、スーパービジョン能力の向上、介入者の文化的/言語的感受性と能力の構築、地域のコミュニティヘルスワーカーを介入者に加えた紹介ネットワークへのアクセス、セッションの構成方法における柔軟性の向上が含まれている。.
“依恋和生物行为追赶” (ABC) 是一种旨在增强高危婴儿社交情感和调节功能的干预措施。然而, 在南非等新的文化背景下, 将ABC用于智力残疾或发育迟缓 (ID/DD) 的婴幼儿, 可能需要进行调整适应。因此, 本研究旨在探讨临床专家的意见和护理人员对南非ID/DD儿童使用ABC的看法。研究还试图将接受ABC的ID/DD儿童家庭以及实施ABC的干预者的经验融入南非首次开展ABC的实践中。对18名参与者进行了半结构化访谈。主题分析阐述了12个主题:干预优势、关注点和建议 (专家) ;关注护理人员与儿童的关系、干预目标和持续时间 (护理人员) ;ABC的好处和文化考量 (ABC受众) ;重点突出、目标明确、反馈价值、支持性监督、工作联盟和经历的挑战 (ABC干预者) 。实践和培训建议包括对父母进行心理教育和针对ID/DD的干预者培训, 扩大监督能力, 培养干预者的文化、语言敏感性和能力, 使用转诊网络, 将当地“社区卫生工作者”纳入干预者, 以及如何更加灵活地组织课程。.
برنامج التعلق واللحاق السلوكي الحيوي (ABC) هو تدخل يستهدف تعزيز الأداء الاجتماعي والعاطفي والتنظيمي للرضع المعرضين للخطر. ومع ذلك ، فإنه يحتاج إلى تكييف وتعديل حتى يمكن استخدامه للرضع / الأطفال الصغار الذين يعانون من إعاقات ذهنية / تأخيرات في النمو وفي السياقات الثقافية الجديدة ، مثل جنوب إفريقيا. تهدف هذه الدراسة إلى استكشاف آراء الخبراء الاكلينيكيين وتصورات مقدمي الرعاية فيما يتعلق باستخدام ABC للأطفال الذين يعانون من إعاقات ذهنية أو تأخر نمو (DD-ID) في جنوب إفريقيا. كما سعت إلى دمج تجارب أسر الأطفال والمختصين الذين تعاملوا مع برنامج (ABC) في أول تطبيق له في جنوب إفريقيا. أجريت مقابلات شبه منظمة مع 18 مشاركا. أسفر التحليل الموضوعي عن 12 موضوعًا رئيسيًا: جوانب القوة في التدخل ، جوانب تدعو للقلق ، والتوصيات (الخبراء) ؛ التركيز على العلاقة بين مقدم الرعاية والطفل ، وأهداف التدخل ومدته (مقدمو الرعاية) ؛ فوائد ABC والاعتبارات الثقافية (متلقو ABC) ؛ التركيز والاستهداف ، قيمة التعليقات ، الإشراف الداعم ، تحالف العمل ، والتحديات التي تم مواجهتها. (متدخلو ABC). تتضمن توصيات الممارسة والتدريب التثقيف النفسي للآباء وتدريب المتدخلين في الإعاقة الذهنية وتأخر النمو ، وتوسيع القدرة على الإشراف ، وبناء الحساسية والكفاءة الثقافية / اللغوية للمتدخلين ، والوصول إلى شبكات الإحالة ، بما في ذلك العاملين في الصحة في المجتمع المحلي كمتدخلين ، ومرونة أكبر في كيفية تنظيم الجلسات.

Epilepsy and mental retardation produced by mutations in gene PCDH19 (protocadherin 19) is an X-linked syndrome restricted to females. It starts with global and speech developmental delay and epilepsy; intellectual disability may continue in adults. At least in 20% of cases, there are no seizures or intellectual retardation. We report the case of a girl with epilepsy, developmental delay, and autistic conversion associated with posterior reversible leukoencephalopathy and tractopathy produced by PCDH19 mutation (c.142G>T/ p.Glu48X).
La epilepsia con retardo mental ligado al cromosoma X por mutación del gen PCDH19, es una condición que solo se presenta en las mujeres. El cuadro clínico suele verse complicado con retardo global del desarrollo y epilepsia. En la edad adulta puede manifestarse con discapacidad intelectual y hasta 20 % de las mujeres afectadas no presentan convulsiones ni retardo intelectual. Se presenta el caso de una niña con epilepsia, retardo del desarrollo y conversión autista, asociados con leucoencefalopatía y tractopatía posterior reversible por mutación del PCDH19 (c.142G>T/ p.Glu48X).

To evaluate the clinical characteristics, prevalence and factors associated with delirium in critical patients from 5 to 14 years of age.
An analytical, cross-sectional observational study was made. Delirium was assessed with the Pediatric-Confusion Assessment Method for the Intensive Care Unit (pCAM-ICU) and motor classification was established with the Delirium Rating Scale Revised-98.
A pediatric Intensive Care Unit.
All those admitted over a one-year period were assessed during the first 24-72h, or when possible in deeply sedated patients.
Patients in stupor or coma, with severe communication difficulty, subjected to deep sedation throughout admission, and those with denied consent.
Twenty-nine of the 156 assessed patients suffered delirium (18.6%) and 55.2% were hypoactive. The neurocognitive alterations evaluated by the pCAM-ICU were similar in the three motor groups. Intellectual disability (OR=17.54; 95%CI: 3.23-95.19), mechanical ventilation (OR=18.80; 95%CI: 4.29-82.28), liver failure (OR=54.88; 95%CI: 4.27-705.33), neurological disease (OR=4.41; 95%CI: 1.23-15.83), anticholinergic drug use (OR=3.23; 95%CI: 1.02-10.26), different psychotropic agents (OR=4.88; 95%CI: 1.42-16.73) and tachycardia (OR=4.74; 95%CI: 1.21-18.51) were associated to delirium according to the logistic regression analysis.
The frequency of delirium and hypoactivity was high. It is therefore necessary to routinely evaluate patients with standardized instruments. All patients presented with important neurocognitive alterations. Several factors related with the physiopathology of delirium were associated to the diagnosis; some of them are modifiable through the rationalization of medical care.

Studies have shown that children later diagnosed with autism spectrum disorders (ASD) in their first years of life might show symptoms in main developmental areas and that these signs might be sensed by the parents. The present study investigated in a large birth cohort if children later diagnosed with ASD had deviations at 6 and 18 months in areas such as the ability to self-regulate emotions, feeding, and sleeping. The study was based on prospective information collected from 76,322 mothers who participated in the Danish National Birth Cohort. When the children reached an average age of 11 years, 973 children with ASD and a control group of 300 children with intellectual disability (IDnoASD) were identified via Danish health registries. Associations were found between short periods of breast-feeding and the children later diagnosed with ASD and IDnoASD as well as associations at 18 months to deviations in regulation of emotions and activity. The similarities in these associations emphasize how difficult it is to distinguish between diagnoses early in life.

OBJECTIVE: To examine the influence of a child or adolescent with intellectual disabilities on the family unit.
METHODS: A systematic review of the literature, following the recommendations of the PRISMA statement, was carried out on the PubMed, Scopus, CINAHL, PsycINFO and Psicodoc databases. Original articles were found, published in the last 5 years, in Spanish, English, Portuguese, Italian or French, with summary and full text and satisfactory or good methodological quality. Two independent researchers agreed on their decisions.
RESULTS: In general, care is provided in the family, mothers assume the greater responsibility, and their wellbeing is lower than that of fathers. Having the support of the husband improves their quality of life. The fraternal subsystem can be affected, with regard to the warmth and the status/power of the relationship, and behavioural problems. Family health may be affected in all its dimensions: family functioning and atmosphere due to increased demands and changes in the organisation and distribution of roles; family resilience and family coping, due to rising costs and dwindling resources; family integrity could be strengthened by strengthened family ties. Quality of family life is enhanced by emotional support.
CONCLUSIONS: These families may need individualised attention due to the increased demand for care, diminishing resources or other family health problems. Nurses using a family-centred care approach can identify these families and help them to normalise their situation by promoting their family health and the well-being of its members.

OBJECTIVE: Conventional cytogenetics diagnoses 3-5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnostic rates from between 2.4 to 5.8%. Currently the comparative genomic hybridisation array or aCGH is the highest performing diagnostic tool in patients with developmental delay/intellectual disability, congenital anomalies and autism spectrum disorders. Our aim is to evaluate the efficiency of the use of aCGH as first-line test in these and other indications (epilepsy, short stature).
METHODS: A total of 1000 patients referred due to one or more of the abovementioned disorders were analysed by aCGH.
RESULTS: Pathogenic genomic imbalances were detected in 14% of the cases, with a variable distribution of diagnosis according to the phenotypes: 18.9% of patients with developmental delay/intellectual disability; 13.7% of multiple congenital anomalies, 9.76% of psychiatric pathologies, 7.02% of patients with epilepsy, and 13.3% of patients with short stature. Within the multiple congenital anomalies, central nervous system abnormalities and congenital heart diseases accounted for 14.9% and 10.6% of diagnoses, respectively. Among the psychiatric disorders, patients with autism spectrum disorders accounted for 8.9% of the diagnoses.
CONCLUSIONS: Our results demonstrate the effectiveness and efficiency of the use of aCGH as the first line test in genetic diagnosis of patients suspected of genomic imbalances, supporting its inclusion within the National Health System.

BACKGROUND: Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test.
METHODS: We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH.
RESULTS: Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25).
CONCLUSIONS: Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD.

The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level.
CONCLUSIONS: Approximately 100 cases have been documented since 1981. This rare disease is the most common subtelomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease.

BACKGROUND: The dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (CGG) in the FMR1 gene mutation is responsible for three OMIM syndromes with a distinct clinical phenotype: Fragile X syndrome (FXS) and two pathologies in adult carriers of the premutation (55-200 CGG repeats): Primary ovarian insufficiency (FXPOI) and tremor-ataxia syndrome (FXTAS) associated with FXS.
UNASSIGNED: CGG mutation dynamics of the FMR1 gene were studied in DNA samples from peripheral blood from the index case and other relatives of first, second and third degree by TP-PCR, and the percentage methylation.
RESULTS: Diagnosis of FXS was confirmed in three patients (21.4%), eight patients (57.1%) were confirmed in the premutation range transmitters, one male patient with full mutation/permutation mosaicism (7.1%) and two patients (14.3%) with normal study. Of the eight permutated patients, three had FXPOI and one male patient had FXTAS.
CONCLUSIONS: Our study suggests the importance of making an early diagnosis of SXF in order to carry out a family study and genetic counselling, which allow the identification of new cases or premutated patients with FMR1 gene- associated syndromes (FXTAS, FXPOI).

BACKGROUND: Anthropometric variables such as weight, height and body length in children and adolescents with and without intellectual disabilities should be studied in connection with nutritional status, physical growth and biological maturation.
OBJECTIVE: a) to analyze the anthropometric profile based on nutritional status, b) to determine the prevalence of overweight and short stature c) to propose equations for predicting height from anthropometric variables.
METHODS: A total of 49 children and adolescents with intellectual disabilities, and from a special education school were studied (30 boys and 19 girls). Weight, height, trunk-cephalic height, forearm and foot length were evaluated. The calculation of nutritional status resulted in the establishment of nutritional categories: underweight, normal and overweight.
RESULTS: The anthropometric profile of males varies significantly when classified according to nutritional categories (P<.05); however no variations were observed in the girls (P>.05). Also, high values of overweight prevalence were observed in both genders (43% of boys and 26% of girls). Variables such as age, weight, length of the forearm in females, and foot length in males are good predictors of height (R(2) = 91-94% males and R(2) = 87% females).
CONCLUSIONS: A high percentage of overweight cases were observed; therefore, rigorous control and monitoring of nutritional status are suggested. The proposed regression equations could be an option in schools to easily and simply predict height.