Dubowitz Syndrome: a Review and Implications for Cognitive, Behavioral, and Psychological Features
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Elmer ress Review J Clin Med Res • 2011;3(4):147-155 Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features Rebekah S. Hubera, Daniel Houlihanb, c, Kevin Filterb than 200 cases have been documented in the literature. It Abstract is marked by growth retardation, microcephaly, short stat- ure, characteristic facial features, skin eruptions, and mild Dubowitz syndrome is a rare autosomal recessive disorder charac- to severe mental retardation [1]. Children with the disorder terized by micorcephaly, short stature, abnormal faces, and mild to also display similar behavioral characteristics. Hyperactivity severe mental retardation. Growth retardation occurs both intrauter- and short attention span [2], impulsivity and aggressiveness ine and postnatal. Behavioral characteristics include hyperactivity, [3, 4], shyness and a dislike of crowds [5], refusal of food short attention span, and aggressiveness. Behavior problems in- and bedwetting [3] have all been reported. Certain medical clude diffi culty feeding, sleep disturbance, and bedwetting. Individ- problems are associated with the condition [6-10]. Dubowitz uals with the disorder have displayed shyness, fear of crowds, and dislike of loud noises. A high-pitched or hoarse voice is common. syndrome commonly leads to decreased motor and language Defi cits have been found in speech and language skills, reasoning functioning [5], developmental delay [3], and an increased and memory skills, self-help skills, and psychomotor functioning. risk for a shorter life span [4, 6, 13]. Ocular, dental, cutaneous, skeletal, cardiovascular, gastrointestinal, The disorder was fi rst discovered in a female child in neurological, immunological, and hematological medical diffi cul- 1965 by Victor Dubowitz. He described the disorder and ties have been noted. Approximately 148 cases have been described proposed it was a phenotype of Boone’s syndrome [1]. The in the literature. The cause of the disorder remains unknown, how- syndrome was later identifi ed and named by Grosse [2] and ever, research suggests genetic origin. Past research emphasizes Opitz [11]. The cause of Dubowitz syndrome remains un- physical characteristics and medical complications. There is a lack known, however, literature points to genetics and chromo- of cognitive, behavioral, and psychological information avail- somal instability [3, 12, 13]. Sporadic cases suggest growth able regarding the disorder. This article presents a review of the hormone defi ciency [14] or defects in the cholesterol biosyn- literature and provides assessment and treatment implications for the cognitive, behavioral, and psychological aspects of Dubowitz thetic pathway [15] as the source of the disorder. Due to its syndrome. rarity, most reports discussed in the literature are case studies that emphasize specifi c physical anomalies and new medical fi ndings. Keywords: Dubowitz; Syndrome; Autosomal; Recessive Emphasis has been given to physical and medical phe- nomenology of the disorder, but there is a lack of thorough examination of cognitive, behavioral, and psychological as- pects. To date, only one publication has focused specifi cally Introduction on the psychological status of individuals with Dubowitz syndrome [3]. The study reported on intellectual function- Dubowitz syndrome is a rare autosomal recessive disorder ing, language and fi ne motor developmental delays in ten that was fi rst identifi ed in children over 40 years ago. Less cases. Parent report addressed adaptive functioning and be- havioral defi cits [3]. However, this research was conducted more than two decades ago and failed to objectively evalu- ate individuals’ behavioral characteristics and adaptability. Manuscript accepted for publication May 6, 2011 There is a need in the literature to measure these features a to provide a complete illustration of the disorder and how it University of Utah, SLC, USA affects children. The literature also fails to discuss manage- bMinnesota State University, Mankato, USA cCorresponding author: Daniel Houlihan. ment of these attributes. This paper thoroughly reviews 148 Email: [email protected] cases of Dubowitz syndrome and provides assessment and treatment implications for cognitive, behavioral, and psy- doi:10.4021/jocmr581w chological functioning. Articles © The authors | Journal compilation © J Clin Med Res and Elmer Press™ | www.jocmr.org 147 Huber et al J Clin Med Res • 2011;3(4):147-155 Description of Disorder clude cleft palate, submucous cleft palate, and cleft uvula [5, 10]. Velopharngeal insuffi ciency results in failure of the Phenomenology soft palate to reach the rear pharyngeal wall which can cause high pitched or hoarse speech [5]. Dental manifestations in- Facial characteristics clude crowded, missing, irregular, or rotated teeth. In chil- dren with Dubowitz syndrome, delayed eruption of teeth has Individuals with Dubowitz syndrome have distinct facial been more commonly documented [5, 18]. characteristics which distinguish it from other disorders with similar symptomology. Distinctive abnormalities with the Growth retardation shape of the face, eyes, ears, nose, and mouth are common. The face is narrow or triangular shaped [5, 18] with a sloping Growth retardation occurs both pre and post birth. In 14 cas- forehead [5, 16, 17]. The supraorbital ridge is shallow and es, it was found only after birth [5]. One of the most distinct even with the face [5, 17, 18]. Micrognathia, a receding chin features is the small size of the body and the head. Micro- that results in an underbite, was present in 85 of the cases cephaly, short stature, and low weight is common [5, 10, 16- [5,16-19]. The hair and the eyebrows are thin and sparse 19]. In 141 cases, the average circumference of the head at [5, 10, 16, 18, 19]. Facial asymmetry or abnormal neck has birth was 31.0 cm and the weight ranged from 900 to 3,600 g been reported, but occurs in less than ten percent of cases [5]. Short stature is not as common as low weight. In 56 per- [5]. The ears vary in size, but are usually more prominently cent of cases, intrauterine growth retardation (birth weight positioned. Ears are low set [5, 19] and can be posteriorly less than 2,500 g at full term) was noted [5]. Physical devel- angulated [5]. In 41 cases, dysplastic (poorly-formed) ears opment is often months to years behind the actual age of the exist [10]. Otis media (infl ammation of the middle ear) is child [3]. Growth charts of 5 cases presented by Orrison and often severe and can require the insertion of tubes [24]. A colleagues illustrate growth retardation in all cases [21]. At broad or fl at nasal bridge is common [5, 10, 16], and some birth, only one child was 3 standard deviations below normal cases document a prominent round tip of the nose [5]. birth weight. When measured months later, 4 children were Several malformations are associated with the eyes. below the 3rd standard deviation and one was below the sec- Drooping of the upper eyelid was observed in the major- ond standard deviation of weight for their age [21]. ity of cases [5, 10, 16, 18]. Epicanthal folds are excessive Retarded bone maturation can result in decreased tone and cover the inner corner of the eye [5, 18]. Twenty fi ve of the skeletal muscle, characterized by weakness and fl oppi- percent of the cases report abnormal palperbral fi ssures [5, ness [10] (hypotonia). Retarded bone maturation was found 17, 19] (narrow longitudinal opening above the eyelids). Fif- in over 25% of cases [5, 10]. In a few individuals, the joints teen percent noted telecanthus [5, 17, 18] (increased distance were hyper extensible [5, 10]. Other anomalies include scoli- between the inside corner of the eye to the nose) or hyper- osis [22], missing or underdeveloped ribs [10, 16], and fused telorism [5, 16]. Investigation of the size and functioning of vertebra [5, 10]. One patient presented skeletal abnormali- the eyes has also revealed irregularities. Unnatural small- ties similar to his brother who was diagnosed with Klippel ness of the eyes has been mentioned [5, 18]. Microphthalmia Feil syndrome [16]. The hands and feet are not apart from (large eyes in comparison to the face) were noted in one case physical deformities. Problems with the feet include fl at [18]. Megalocornea (enlarged rear segment of the eye) is rare footedness, club foot, dorsifl exion, plantar fl exion, abducted [20]. Strabismis and estropia exist but have been less men- and inverted foot, or various combinations in which the foot tioned [5]. Visual problems such as farsightedness (hypero- is twisted out of shape or position [5, 10]. More common pia), cataracts, and primary pigmentary degeneration of the anomalies include fi fth fi nger clinodactyly, which is perma- retina (tapetoretinal degeneration) have also been found [5, nent bending of the “baby” fi nger, and syndactyly, which the 20]. Iris coloboma, (some structure of the eye is absent) iris 2nd or 3rd fi ngers or toes have fusion or webbing together hypoplasia, (underdevelopment of the iris), nystagmus, an- with skin [5, 21]. Two cases found children with abducted isocoria, paresis, and astigmatism were noted in less than 5 thumbs [5, 23]. cases [5, 20]. Strabismus is an anomaly in which the eyes are Dubowitz syndrome has been associated with genital not aligned with each other under normal conditions [20]. and rectal abnormalities [5, 24, 25]. Cryptorchidism, the Children who experience strabismus can also experience condition when one or both testes fails to descend, was found diplopia (double vision) and problems with depth perception in 27 cases [5, 10]. Hypospadias, abnormal development of due to the misalignment of the eyes. Often, one of the images the urethra, was found in 10 cases [5]. In males, the urethra is suppressed by the brain in order to compensate [20]. opens on the bottom surface of the penis or in the perine- A large mouth is rare, but was observed in some cases um. In females, the urethra opens into the vagina.