Case presentation
Clinical data
Patients described in this study were enrolled in a large study of genomic aberrations in patients with developmental delays and intellectual disabilities at the Children’s Hospital of Chongqing Medical University, Chongqing, China. The study was approved by the hospital’s Ethics Committee. Patient 1 was a 5-year-old boy who had a history of developmental delays, intellectual disabilities, speech delay, and behavioral problems. He was the child of a healthy non-consanguineous couple. Family history was unremarkable. The gravida 1 para 1 mother was 25, and the father, 28, at the time of his birth. The mother had no history of miscarriages, and the pregnancy was uneventful. The patient was delivered at full-term, birth weight was 1,800 g (3th percentile); length, 47 cm (25th percentile); occipital frontal circumference, 32 cm (25th percentile). Resuscitation was performed at birth because of suffocation of unknown cause. No signs of asphyxia, jaundice, feeding problems, infections, or other problems were reported in the post-natal follow-up. Head control was achieved at 3 months; standing with aid at 1 year; and walking at 2 years. He started saying simple words at 2 years, and his speech was monosyllabic at 5. Behavioral problems started at 2. Evaluation at age of 5 showed that the patient was aggressive, short tempered, and had a tendency toward outbursts and being anger. He was hyperactive, impulsive, failed to follow instructions and rules, and was destructive. He had difficulties in focusing and was not able to finish tasks. He was easy to get into fights with peers, and did not do well in group activities. Physical exams showed slight microcephaly, thin upper lip, preauricular fistula, hypertelorism (Figures 1A and 1B), moderate hypotonia at low extremities, and unable to stand on one foot and to run. Ligamentous laxity at the ankle joint was noted. At the age of 5, according to the scale of Gross Motor Function Measure [9], his scores for lying and rolling were 97; crawling and kneeling, 77; sitting, 100; standing, 79; and walking, 67. Based on Gesell Developmental Observation [10] (5 years old) his social adaptive skills were at 20 months; organizational skills, 15 months; motor skills, 18 months; and language skills, 19 months. Electroencephalography (EEG) study and cranial CT were normal, and no cardiac defects were detected. Patient 2 was born to a 34-year-old mother and 29-year-old father who are not related. The pregnancy and delivery were uneventful. His birth weight was 3,700 g (75th percentile); length, 55 cm (50th percentile); head circumference, 35 cm (50th percentile). He did not walk until 2 years old, said simple words at 3, and started to play with peers at 4. At age of 8 years, he had difficulties in standing straight on one foot and had joint laxity. He showed hypertelorism, slightly anteverted nares, and low-set ears (Figures 1C and 1D). He had pathic facial expression and said simple sentences. By age of 9 years, his body weigh was 31.5 kg (95th percentile); height, 125 cm (50th percentile); and head circumference, 53 cm (75th percentile). He had no problems in walking and running. He spoke simple sentences and was not able to repeat stories. The behavioral problems started at age of 2 years. He did not like to join group activities, and had tendency to be aggressive and destructive. Evaluations with the Weshsler Intelligence Scale for Children, fourth edition (WISC-IV) [11] showed his four index cores scores at age of 9 were: verbal comprehension, 45; perceptual reasoning, 40; working memory, 50; processing speed, 46 and full scale IQ, 41. EEG study and cranial CT were all normal.
Case presentation
Clinical data
Patients described in this study were enrolled in a large study of genomic aberrations in patients with developmental delays and intellectual disabilities at the Children’s Hospital of Chongqing Medical University, Chongqing, China. The study was approved by the hospital’s Ethics Committee. Patient 1 was a 5-year-old boy who had a history of developmental delays, intellectual disabilities, speech delay, and behavioral problems. He was the child of a healthy non-consanguineous couple. Family history was unremarkable. The gravida 1 para 1 mother was 25, and the father, 28, at the time of his birth. The mother had no history of miscarriages, and the pregnancy was uneventful. The patient was delivered at full-term, birth weight was 1,800 g (3th percentile); length, 47 cm (25th percentile); occipital frontal circumference, 32 cm (25th percentile). Resuscitation was performed at birth because of suffocation of unknown cause. No signs of asphyxia, jaundice, feeding problems, infections, or other problems were reported in the post-natal follow-up. Head control was achieved at 3 months; standing with aid at 1 year; and walking at 2 years. He started saying simple words at 2 years, and his speech was monosyllabic at 5. Behavioral problems started at 2. Evaluation at age of 5 showed that the patient was aggressive, short tempered, and had a tendency toward outbursts and being anger. He was hyperactive, impulsive, failed to follow instructions and rules, and was destructive. He had difficulties in focusing and was not able to finish tasks. He was easy to get into fights with peers, and did not do well in group activities. Physical exams showed slight microcephaly, thin upper lip, preauricular fistula, hypertelorism (Figures 1A and 1B), moderate hypotonia at low extremities, and unable to stand on one foot and to run. Ligamentous laxity at the ankle joint was noted. At the age of 5, according to the scale of Gross Motor Function Measure [9], his scores for lying and rolling were 97; crawling and kneeling, 77; sitting, 100; standing, 79; and walking, 67. Based on Gesell Developmental Observation [10] (5 years old) his social adaptive skills were at 20 months; organizational skills, 15 months; motor skills, 18 months; and language skills, 19 months. Electroencephalography (EEG) study and cranial CT were normal, and no cardiac defects were detected. Patient 2 was born to a 34-year-old mother and 29-year-old father who are not related. The pregnancy and delivery were uneventful. His birth weight was 3,700 g (75th percentile); length, 55 cm (50th percentile); head circumference, 35 cm (50th percentile). He did not walk until 2 years old, said simple words at 3, and started to play with peers at 4. At age of 8 years, he had difficulties in standing straight on one foot and had joint laxity. He showed hypertelorism, slightly anteverted nares, and low-set ears (Figures 1C and 1D). He had pathic facial expression and said simple sentences. By age of 9 years, his body weigh was 31.5 kg (95th percentile); height, 125 cm (50th percentile); and head circumference, 53 cm (75th percentile). He had no problems in walking and running. He spoke simple sentences and was not able to repeat stories. The behavioral problems started at age of 2 years. He did not like to join group activities, and had tendency to be aggressive and destructive. Evaluations with the Weshsler Intelligence Scale for Children, fourth edition (WISC-IV) [11] showed his four index cores scores at age of 9 were: verbal comprehension, 45; perceptual reasoning, 40; working memory, 50; processing speed, 46 and full scale IQ, 41. EEG study and cranial CT were all normal.
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